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{{Merge|Human genetic variation|date=May 2007}}
{{Merge|Human genetic variation|date=May 2007}}
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''This article deals with racial concepts defined by genetic distance and not craniofacially (based on skull measurements) or by typology (physical type). Races categorized using alternative methods yield different groups, making them non-concordant.<ref>John Relethford, The Human Species: An introduction to Biological Anthropology, 5th ed. (New York: McGraw-Hill, 2003).</ref>''


Views on '''[[race]] and genetics''' vary considerably between and within academic disciplines. Many views are complex, and are distinguished by subtle differences. Often the significance of differences between views is related to the use of [[race in biomedicine]]. This article compares the major contemporary views on race.


== Summary of contemporary views ==
===Race as a biological construct===
* The term 'race' is usually used as a synonym for [[subspecies]] by biologists, though there is a degree of confusion over the term and both terms have a variety of meanings. There is no consensus definition for either subspecies or "race" in biology.<ref>Keita ''et al.'' (2004)</ref><ref>Templeton (1998)</ref><ref>Pigliuchi and Kaplan (2003)</ref> Some biologists do not accept the concept of classification below the species level whatsoever, arguing that subspecific classifications are not biological units and that they are subjective and arbitrary.<ref>Keita (1993). p. 425</ref>
* ''[[Taxonomy|Taxonomic]]'': "An aggregate of phenotypically similar populations of a species, inhabiting a geographic subdivision of the range of a species, and differing taxonomically from other populations of the species."<ref>Mayr (1969)</ref>
* ''[[population genetics|Population]]'': "Races are genetically distinct Mendelian populations. They are neither individuals nor particular genotypes, they consist of individuals who differ genetically among themselves."<ref>Dobzhansky (1970)</ref>
* ''[[Lineage (evolution)|Lineage]]'': "A [race] is a distinct evolutionary lineage within a species. This definition requires that a [race] be genetically differentiated due to barriers to genetic exchange that have persisted for long periods of time; that is, the [race] must have historical continuity in addition to current genetic differentiation."<ref name="temp">Templeton (1998)</ref>
* The phylogeographic criteria for 'subspecies' were established in the early [[1990s]].<ref>Avise and Ball (1990)</ref><ref>O’Brien and Mayr (1991)</ref><blockquote>members of a subspecies would share a unique, geographic locale, a set of phylogenetically concordant phenotypic characters, and a unique natural history relative to other subdivisions of the species. Although subspecies are not reproductively isolated, they will normally be allopatric and exhibit recognizable phylogenetic partitioning. ... evidence for phylogenetic distinction must normally come from the concordant distributions of multiple, independent genetically based traits.<ref>Miththapala ''et al.'' (1996)</ref></blockquote>


In the last few centuries science has had an important influence on everyday notions of race. Commonly referred to in today's society are four to five racial groups, each with millions of people. The influence of early scientists resulted in beliefs about race that assumed that racial categories reflect dramatic, underlying, essential differences among racial groups. To many observers, individuals of different races look and act very differently from each other. They attribute these differences to the underlying genetic differences between the various groups.
===Differing scopes and goals of race research===


==Interest in race and genetics==
Discussions of race are made more complicated because race research has taken place on at least two scales (global and national) and from the point of view of different research aims. Evolutionary scientists are typically interested in humanity as a whole; and taxonomic racial classifications are often either unhelpful to, or refuted by, studies that focus on the question of global human diversity. Policy-makers and applied professions (such as law-enforcement or medicine), however, are typically concerned only with genetic variation at the national or sub-national scale, and find taxonomic racial categories useful.
There are several reasons why people today are interested in the genetics of race.
===Ethnocentrism===
Ethnocentrism often entails the belief that one's own race or ethnic group is the most important and that some or all aspects of its culture are superior to those of other groups. [[Claude Lévi-Strauss]] defined racism as the belief that one's race is biologically superior—that superior genes, chromosomes, DNA put it at an advantage over all others<ref>[http://www.nytimes.com/books/first/c/cavalli-sforza-genes.html]</ref>. These beliefs have lead some to use science to attempt to find the genetic basis for the superiority of their own race.


Today sociologists define race and ethnicity as social constructs with no biological basis. They site many cases of how [[caste]]s and ethnic groups have been constructed from groups that are genetically indistinguishable. Since many of the conflicts today are internal they involve groups that are closely related. Examples involve the [[Hutu]]-[[Tutsi]] conflict, the [[Yugoslav wars]]<ref>[Genes, Culture, and Human Evolution: A Synthesis page 156 ISBN 1405150890 ]</ref> or the various conflicts in the middle east<ref>[http://news.bbc.co.uk/2/hi/science/nature/742430.stm]</ref>.
These distinctions of research aims and scale can be seen by the example of three major research papers published since [[2002]]: Rosenberg et al. (2002), Serre & Pääbo (2004), and Tang et al. (2005). Both Rosenberg et al. and Serre & Pääbo study global genetic variation, but they arrive at different conclusions. Serre & Pääbo attribute their differing conclusions to experimental design. While Rosenberg et al. studied individuals from populations across the globe without respect to geography, Serre & Pääbo sampled individuals with respect to geography. By sampling individuals from major populations on each continent, Rosenberg et al. find evidence for genetic "clusters" (i.e., races). In contrast, Serre & Pääbo find that with respect to geography human genetic variation is continuous and "clinal". The research interest of Rosenberg et al. is medicine (i.e., [[epidemiology]]), whereas the research interest of Serre & Pääbo is human evolution. Tang et al. studied genetic variation within the [[United States]] with an interest in whether race/ethnicity or geography is of greater importance to epidemiological research. In contrast to Serre & Pääbo, Tang et al. find that race/ethnicity is of greater importance within the United States. Further recent research<ref>[http://www.journals.uchicago.edu/AJHG/journal/issues/v77n3/42406/brief/42406.abstract.html "An Algorithm to Construct Genetically Similar Subsets of Families with the Use of Self-Reported Ethnicity Information"], Andrew D. Skol, Rui Xiao, Michael Boehnke, and Veterans Affairs Cooperative Study 366 Investigators, Department of Biostatistics, University of Michigan, Ann Arbor in ''Am. J. Hum. Genet.'', 77:346-354, 2005.</ref> correlating self-identified race with population genetic structure<ref>[http://pritch.bsd.uchicago.edu/software/structure2_1.html Structure 2.1]</ref> echoed the conclusions in Tang. Indeed, the contrasting conclusions between global and national levels of analysis were predicted by Serre & Pääbo:
{{quotation|It is worth noting that the colonization history of the United States has resulted in a "sampling" of the human population made up largely of people from western Europe, western Africa, and Southeast Asia. Thus, studies in which individuals from Europe, sub-Saharan Africa, and Southeast Asia are used... might be an adequate description of the major components of the U.S. population.}}


===Race and Intelligence===
== Genetic variation and human populations ==
{{main|Race and Intelligence}}
{{Infobox multi locus allele clusters}}
There is considerable controversy over whether there are any differences in intelligence between the various populations. Much of this controversy centers around racial and ethnic differences in intelligence test scores.
===Genetic variation is structured by geographic origin===
Human genetic variation can be used to deduce the geographical origins of an individual's recent ancestors, this is possible because alleles that vary geographically often correlate with alleles for other loci that vary geographically (and form clusters), it is possible to measure this correlation, which enables humans to be successfully grouped into populations, the greater the number of loci studied, the more accurately individuals can be correctly assigned to a group.<ref>Edwards (2003) states: ''Each additional locus contributes equally to the within-population and between-population sums of squares, whose proportions therefore remain unchanged but, at the same time, it contributes information about classification which is cumulative over loci because their gene frequencies are correlated.''</ref> This is possible because individuals from geographically proximate regions share much more recent common ancestry with each other than they do with individuals from geographically disparate regions, with the result that they are likely to be genetically more similar, therefore close geographical proximity strongly correlates with genetic similarity.<ref>Risch ''et al.'' (2002) state: ''Genetic differentiation between individuals depends on the degree and duration of separation of their ancestors. Geographic isolation and in-breeding (endogamy) due to social and/or cultural forces over extended time periods create and enhance genetic differentiation, while migration and inter-mating reduce it.''</ref><ref name="rosenberg">Rosenberg ''et al.'' (2005)</ref>


Another area of contention is the question of why certain societies such as those associated with western Eurasia, have made large technological strides in recent times while other societies are still living in the [[stone age]] in the 21st century. On one hand there are some who believe that these differences arose due to inherently genetic factors. On the other hand there are those who argue that the reason why certain societies progressed was more a result of opportunity and necessity rather than any inherent genetic advantages in cognitive ability.
===Multilocus Allele Clusters===


===Race and Behaviour===
[[Image:Rosenberg 1048people 993markers.jpg|thumb|left|300px|Human population structure can be inferred from multi locus DNA sequence data. In Rosenberg ''et al.'' (2002, 2005), individuals from 52 populations were examined at 993 DNA markers. These data were used to partition individuals into K = 2, 3, 4, 5 or 6 clusters. In this figure, the average fractional membership of individuals from each population is represented by horizontal bars partitioned into K colored segments.
Carolus Linnaeus was a pioneer in defining the concept of race in humans. Each race had certain characteristics that he considered endemic to individuals belonging to it. Native Americans were reddish, stubborn and easily angered. Africans were black, relaxed and negligent. Asians were sallow, avaricious and easily distracted. Europeans were white, gentle and inventive. Linnaeus's races were clearly skewed in favour of Europeans. The legacy of these notions survives today in the [[stereotypes]] about racial behaviour.
<br>2 clusters: Africa+Eurasia, East Asia+Oceania+America
<br>3 clusters: Africa, Eurasia, East Asia+Oceania+America
<br>4 clusters: Africa, Eurasia, East Asia+Oceania, America
<br>5 clusters: Africa, Eurasia, East Asia, Oceania, America
<br>6 clusters: Africa, Eurasia, East Asia, Oceania, N. America, S. America
]]


===Race and physical ability===
Since the 1980s it has been known that human genetic variation is low relative to other species, this is usually attributed to the recent origins of our species, and tends to support the [[recent single-origin hypothesis]] (or Out of Africa).<ref name="Bamshad">Bamshad ''et al.'' (2004)</ref> It has also been claimed that most of this small variation is distributed at the individual and local level (about 90-94%), with the remaining 6-10% distributed at the continental (or racial) level.<ref>According to Rosenberg (2002): ''The average proportion of genetic differences between individuals from different human populations only slightly exceeds that between unrelated individuals from a single population.''</ref><ref>According to Risch ''et al.'' (2002) ''Analysis of variance has led to estimates of 10% for the proportion of variance due to average differences between races, and 75% of the variance due to genetic variation within populations. Comparable estimates have been obtained for classical blood markers [15,16], microsatellites [17], and SNPs [12].''</ref><ref>Kittles and Weiss (2003) state: ''In particular, the finding is consistent that although there are rare variants, about 85–95% of all genetic variance occurs within populations (almost no matter how they are defined) and only the remaining smaller fraction occurs between groups.''</ref><ref>The Race, Ethnicity, and Genetics Working Group (2005) state: ''in general, however, 5%–15% of genetic variation occurs between large groups living on different continents, with the remaining majority of the variation occurring within such groups (Lewontin 1972; Jorde et al. 2000a; Hinds et al. 2005). This distribution of genetic variation differs from the pattern seen in many other mammalian species, for which existing data suggest greater differentiation between groups (Templeton 1998; Kittles and Weiss 2003).''</ref> This observation has been used to argue that racial classifications are not possible when within group variation so greatly exceeds between group variation.<ref name="long">Long and Kittles (2003)</ref>
The apparent dominance of certain ethnicities in certain sporting abilities has led some to question whether there is a genetic component predisposing certain races to different sports. Examples include people of west African descent in sprinting and Europeans in weightlifting. The dominance of blacks in some American sports has been the subject of a longtime controversy. The theory that blacks are naturally superior is generally dismissed as racist. Critics say that presumption also infers that athletes of African descent are intellectually and morally inferior and dismissing the hard-work of blacks who excel in sports<ref>[http://transcripts.cnn.com/TRANSCRIPTS/0007/23/bs.00.html]</ref><ref>[http://www.jonentine.com/reviews/express.htm]</ref>
<ref>[http://www.pbs.org/race/000_About/002_04-background-01-08.htm Race, the power of an illusion]</ref>.


===Nature versus nurture===
However, [[A. W. F. Edwards]] claimed in 2003 that this conclusion is unwarranted because it assumes that all loci are independent, Edwards argues that this is not the case <blockquote>The genes at a single locus are hardly informative about the population to which their bearer belongs...Each additional locus contributes equally to the within-population and between-population sums of squares, whose proportions therefore remain unchanged but, at the same time, it contributes information about classification which is cumulative over loci because their gene frequencies are correlated...it will be possible to identify the two clusters with a risk of misclassification which tends to zero as the number of loci increases.<ref>Edwards (2003)</ref></blockquote> Edwards states that genes should not be taken into account on an individual basis, just as a single characteristic (such as skin colour or eye colour) cannot be used to determine the geographic origin of a person's recent ancestors, so the same for the allelic frequency of an individual locus. Conversely, just as physical features tend to correlate (for example blue eye colour correlates with pale skin colour, that is skin colour ''and'' eye colour), and are not independent, so different alleles for several loci tend to correlate and are not independent. This is the basis of multi-locus allele clustering.
The [[nature versus nurture]] debates concern the relative importance of an individual's innate qualities ("nature") versus personal experiences ("nurture") in determining or causing individual differences in physical and behavioral traits. On the nature side is the philosophy of [[genetic determinism]]. This is the belief that genes determine physical and behavioral phenotypes and that the environment has little or no role in influencing phenotypes . This term is often applied to the mapping of a single gene to a single phenotype such as a gene for intelligence or a gene for [[homosexuality]] or a gene for aggressive behavior.


On the other hand [[social determinism]] the hypothesis that social interactions and social constructs alone are responsible for influencing individual behavior. [[Environmental determinism]] is the view that the physical environment rather than genes or social conditions determine the culture of a society.
It has been argued that the calculation of within group and between group diversity has violated certain assumptions regarding human genetic variation. Calculation of this variation is known as F<sub>ST</sub> and Long and Kittles (2003) have questioned the validity of this reproducible statistic. The first problem is that effective population size is assumed to be equal in the calculation of F<sub>ST</sub>, if population sizes vary, then allele relatedness among alleles will also vary. The second problem is that F<sub>ST</sub> calculation has assumed that each population is evolutionarily independent. Calculation of F<sub>ST</sub> can therefore only be made for the set of populations being observed, and generalisations from specific data sets cannot be applied to the species as a whole.<ref name="long"/>


Nature versus nature controversies often arise when attempting to explain any racial disparity such as athletic success, test scores or health indicators.
Long and Kittles tested four models for determining F<sub>ST</sub> and concluded that the model used most often for estimating this statistic is the simplest and worst fitting. Their best fit model was still a poor fit for the observed genetic variation, and calculation of F<sub>ST</sub> for this model can only be made on a population by population basis. They conclude that African populations have the highest level of genetic diversity, with diversity much reduced in populations outside of Africa. They postulate that if an extra-terrestrial alien life form killed the entire human species, but kept a single population which it preserved, the choice of population to keep would greatly effect the level of diversity represented. If an African population were selected then no diversity would be lost, whereas nearly a third of genetic diversity would be lost if a Papuan New Guinea population were chosen. Indeed within population genetic diversity in African populations has been shown to be greater than between population genetic diversity for Asians and Europeans. They conclude that their findings are consistent with the [[American Association of Physical Anthropologists]] 1996 statement on race <blockquote>that all human populations derive from a common ancestral group, that there is great genetic diversity within all human populations, and that the geographic pattern of variation is complex and presents no major discontinuity.</blockquote> They also state that none of the race concepts they discuss are compatible with their results.<ref name="long"/>


==Early history==
===Distribution of variation===
===Blood groups===
[[Image:groupa.png|thumb|right|300px| geographic distribution of blood group A]]
Prior to the discovery of DNA as the hereditary material scientist used blood proteins to study human genetic variation. The first blood transfusions were recorded in the 15th century in Italy. Many people died from severe reactions and the the practice was banned. The practice started again in the 19th century to combat fatal hemorrhages occurring from childbirth. however many patients were still suffering the sometimes lethal consequences of reaction to the transfusion. in 1875 scientists noticed that this reaction was due to the blood cells clumping together and sometimes bursting open. In 1900 [[Karl Landsteiner]] discovered that the problem was different blood groups of the ABO system.
[[Image:groupb.png|thumb|right|300px| geographic distribution of blood group b]]
During the first world war demand for blood transfusions increased. One of the first papers written on blood groups was by [[Ludwik and Hanka Herschfeld]] who worked at a global blood testing laboratory for the Allied forces. As the allies drew forces from several nations the Herschfelds were able to collect and compile blood group profiles of several nations.


When the compared the results the found the frequencies of blood groups A and B differed greatly from region to region. For example among Europeans 15% were group B and 40% were group A. Africans and Russians had higher frequencies of group B with people from India having the highest proportion. The Herschfelds concluded that humans were made of two different "biochemical races" each with its own origin. These two pure races later became mixed resulting in the complex pattern of groups A and B. This was one of the first indications that visible human variation did not necessarily correlate with the invisible variation.
Two random humans are expected to differ at approximately 1 in 1000 [[nucleotide]]s, whereas two random chimpanzees differ at 1 in 500 nucleotide pairs. Therefore with a genome of approximate 3 billion nucleotides, on average two humans differ at approximately 3 million nucleotides. Most of these [[single nucleotide polymorphisms]] (SNPs) are [[Neutral theory of molecular evolution|neutral]], but some are functional and influence the phenotypic differences between humans. It is estimated that about 10 million SNPs exist in human populations, where the rarer SNP allele has a frequency of at least 1% (see [[International HapMap Project]]).
In the field of [[population genetics]], it is believed that the distribution of [[Polymorphism (biology)|neutral polymorphisms]] among contemporary humans reflects human demographic history. It is believed that humans passed through a [[population bottleneck]] before a rapid expansion coinciding with migrations [[Single origin hypothesis|out of Africa]] leading to an African-Eurasian divergence around 100,000 years ago (ca. 5,000 generations), followed by a European-Asian divergence about 40,000 years ago (ca. 2,000 generations). [[Richard G. Klein]], [[Nicholas Wade]] and [[Spencer Wells]], have postulated that modern humans did not leave Africa and successfully colonize the rest of the world until as recently as 50,000 years B.P., pushing back the dates for subsequent population splits as well.


It was hoped that groups that had similar proportions of the blood groups would be more closely related but instead it was often found that groups separated by large distances such as Madagascar and Russia would have similar frequencies. This confounded scientists who were attempting to learn more about human evolutionary history. The next big break would come with the discovery of more blood groups and proteins<ref name="bryansykes">[http://www.amazon.com/gp/reader/0393323145/ The Seven Daughters of Eve]
The rapid expansion of a previously [[small population size|small population]] has two important effects on the distribution of genetic variation. First, the so-called [[founder effect]] occurs when founder populations bring only a subset of the genetic variation from their ancestral population. Second, as founders become more geographically separated, the probability that two individuals from different founder populations will mate becomes smaller. The effect of this [[assortative mating]] is to reduce gene flow between geographical groups, and to increase the genetic distance between groups. The expansion of humans from Africa affected the distribution of genetic variation in two other ways. First, smaller (founder) populations experience greater [[genetic drift]] because of increased fluctuations in neutral polymorphisms. Second, new polymorphisms that arose in one group were less likely to be transmitted to other groups as gene flow was restricted.
By Sykes, Bryan Chapter 3 ISBN 0393020185</ref>.
===Blood proteins and molecular evolution===
{{further information|[[molecular evolution]]}}
In 1957 [[Emile Zuckerkandl]] began studying the [[amino acid]] sequences of various [[blood proteins]]. Hemoglobin was a useful protein to study because it was found in the blood of every living mammal. When studying the amino acid sequences of various mammals Zuckerkandl found that the protein sequences were quite similar but he also noticed an interesting pattern. He found that the more closely related animals were the more similar their amino acid sequences were. For example the human and gorilla sequences differed in two places while the human and the horse differed in 15 places. This suggested that the proteins could serve as a [[molecular clock]] indicating when the two different species last shared a common ancestor by counting the number of different amino acids. A [[phylogenetic]] tree could then be built that portrays the evolutionary relatedness of various species<ref name="bryansykes">.


[[Luigi Luca Cavalli-Sforza]] and [[A. W. F. Edwards|Anthony Edwards]] would then incorporate these techniques in the field of [[population genetics]]. Using computer based statistical analysis to average across the several blood group systems they were able to produce a phylogenetic relationship of the various populations around the world<ref name="bryansykes">.
Many other geographic, climatic, and historical factors have contributed to the patterns of human genetic variation seen in the world today. For example, population processes associated with colonization, periods of geographic isolation, socially reinforced endogamy, and natural selection all have affected allele frequencies in certain populations (Jorde ''et al.'' 2000b; Bamshad and Wooding 2003). In general, however, the recency of our common ancestry and continual gene flow among human groups have limited genetic differentiation in our species.


In 1972 [[Richard Lewontin]] performed a statistical analysis of the data available on blood proteins. His results showed that the majority of genetic differences between humans, about 85%, were found within a population. 7% of genetic differences were found between populations within a race. Only 8% on average was found to differentiate the various races.
===Substructure in the human population===
[[Image:Admixture triangle plot.png|thumb|right|356px|Triangle plot shows average admixture of five North American ethnic groups. Individuals that self-identify with each group can be found at many locations on the map, but on average groups tend to cluster differently.<ref>Adapted from Parra ''et al.'' (2004)</ref>]]


==Human evolution==
New data on human genetic variation has reignited the debate surrounding race. Most of the controversy surrounds the question of how to interpret these new data, and whether conclusions based on existing data are sound. Some researchers endorse the view that continental groups do not constitute different subspecies. However, some still debate whether evolutionary lineages should rightly be called "races". These questions are particularly pressing for [[biomedicine]], where self-described race is often used as an indicator of ancestry (see [[race in biomedicine]] below).
{{main|Recent single-origin hypothesis}}
The recent single origin hypothesis states that anatomically modern humans first evolved in Africa some 200,000 years ago. About 50,000 the human population may have been relatively small, with estimates ranging from 2,000-10,000. From this population a small group of people, estimates of about 160 people, left Africa by crossing the Red Sea in to Asia. The descendants of this group would spread to all the major continents and they would come to comprise the major races of today outside Africa.


Since only small group left Africa they carried a small subset of the African gene pool with the larger share remaining in Africa. Thus African populations show a disproportionately greater amount of genetic diversity than all non African populations. For example a region of the insulin gene has 22 different versions among Africans but only 3 versions among non-Africans<ref>[http://www.genome.org/cgi/content/full/13/9/2101]</ref>. When scientist began studying global mitochondrial DNA sequences they identified 33 mitochondrial DNA clans, 13 were from Africa. Though Africa had only 12% of the worlds population it had 40% of the maternal clans. As a rule of thumb for any species the region of greatest diversity is usually the region of origin.
Although the genetic differences among human groups are relatively small, these differences in certain genes such as [[duffy]], [[earwax|ABCC11]], [[SLC24A5]], called [[ancestry-informative marker]]s (AIMs) nevertheless can be used to reliably situate many individuals within broad, geographically based groupings or self-identified race. For example, computer analyses of hundreds of polymorphic loci sampled in globally distributed populations have revealed the existence of genetic clustering that roughly is associated with groups that historically have occupied large continental and subcontinental regions (Rosenberg ''et al.'' 2002; Bamshad ''et al.'' 2003).


Studies using [[Mitochondrial]] DNA have found that all humans today are descended from one woman, named Mitochondrial Eve, who may have lived in Africa some 150,000 years ago. Since Mitochondrial Eve 7500 generations have passed, and since the first split between Africans and non Africans, 2500 generations have passed. This would explain why human genetic diversity is relatively low compared to species that have existed for much longer.
Some commentators have argued that these patterns of variation provide a biological justification for the use of traditional racial categories. They argue that the continental clusterings correspond roughly with the division of human beings into sub-Saharan Africans; Europeans, North Africans, Western Asians, and South Asians; Eastern Asians; Polynesians and other inhabitants of Oceania; and Native Americans (Risch ''et al.'' 2002). Other observers disagree, saying that the same data undercut traditional notions of racial groups (King and Motulsky 2002; Calafell 2003; Tishkoff and Kidd 2004). They point out, for example, that major populations considered races or subgroups within races do not necessarily form their own clusters. Thus, samples taken from India and Pakistan affiliate with Europeans or eastern Asians rather than separating into a distinct cluster.
==Human genome==
{{main|human genome}}
Though [[Watson and Crick]] discovered the structure of [[DNA]] in 1953, its use in studying Human genetic variation was fairly limited because the technology to decode its sequences was too slow. [[Polymerase chain reaction]] was invented in 1983 by [[Kary Mullis]]. This technique allowed for rapid sequencing of segments of DNA. The human genome project would then proceed to sequence a working draft of the human genome in 2000.


The human genome was found to contain 3.1 billion DNA base pairs. Initially scientists had expected to find a significant number of genes, around 100,000 <ref>[http://www.ornl.gov/sci/techresources/Human_Genome/faq/genenumber.shtml]</ref>. However scientists continued to revise down their estimates until finally arriving at a number between 20,000 and 25,000 genes. This low estimate surprised many scientists who viewed the number of genes as related to an organisms complexity. As a comparison much simpler organisms such as the roundworm have only 20,000 genes and certain plants species have more genes than humans.
Furthermore, because human genetic variation is clinal, many individuals affiliate with two or more continental groups. Thus, the genetically based "biogeographical ancestry" assigned to any given person generally will be broadly distributed and will be accompanied by sizable uncertainties (Pfaff ''et al.'' 2004).


Another surprise was that only about 3% of the genome was found to code for protein or had some regulatory purpose. The other 97% of the genome at present has no known function and has been labeled [[junk DNA]].
In many parts of the world, groups have mixed in such a way that many individuals have relatively recent ancestors from widely separated regions. Although genetic analyses of large numbers of loci can produce estimates of the percentage of a person's ancestors coming from various continental populations (Shriver ''et al.'' 2003; Bamshad ''et al.'' 2004), these estimates may assume a false distinctiveness of the parental populations, since human groups have exchanged mates from local to continental scales throughout history (Cavalli-Sforza ''et al.'' 1994; Hoerder 2002). Even with large numbers of markers, information for estimating admixture proportions of individuals or groups is limited, and estimates typically will have wide CIs (Pfaff ''et al.'' 2004).


The human genome is remarkably similar to that of the [[chimpanzee]]. Initially it was estimated that the human and [[chimpanzee genome]]s were 98.6 similar. When insertions and deletions in DNA sequences were later considered the figure was revised down to about 95%. Much of the difference is also junk DNA<ref>[http://www.genome.org/cgi/content/full/15/12/1746]</ref>.
==Biogeographic Ancestry==
===Anthropology===
Biogeographic ancestry is an anthropological concept of lineage that looks at [[kinship and descent]] based on [[biogeography]], a combination of [[biology]] and [[geography]].


==Non concordance==
The study of ancestry based [[mitochondrial DNA]], [[ALU polymorphism]]s, and other genetic markers has significant implications in [[law enforcement]], [[medicine]], [[archaeology]], and [[anthropology]].
[[Image:Nonconcordant traits.jpg|thumb|right|300px| ]]
The most widely used human racial categories are based on various combinations of visible traits such as skin color, eye shape and hair texture. However many of these traits are non-concordant in that they are not necessarily expressed together. For example skin color and hair texture vary independently<ref>[http://www.pbs.org/race/000_About/002_04-background-01-08.htm ]</ref>. This caused problems to early anthropologists who were attempting to classify race based on visible traits. Some example of non-concordance include:
*There are many people in Africa and all over the world affected by [[Albinism]] who have very light skin.
* Skin color varies in all over the world in different populations. People from the Indian subcontinent are sometimes classified as caucasian but some have dark skin.
* [[Epicanthal fold]] are typically associated with [[East Asian]] populations but are found in populations all over the world, including many [[Native Americans]], Southern Africans, the [[Saami]], and even amongst some isolated groups such as the [[Andamanese]].
* Lighter [[hair color]]s are associated with northern Europeans but blond hair is found amongst some of the dark skinned populations of the south pacific, particularly the [[Solomon islands]] and [[Vanuatu]]


Some scientists{{Who|May 21, 2007}} believe genetic ancestry can help to focus the search for [[gene]]s that affect individuals' risks of [[disease]]s, as well as prevalence and distribution of disease. Others{{Who|May 21, 2007}} advocate using it as a means of profiling persons for the purposes of law enforcement. In many of the cases, the term is used synonymously with [[race]] and can be used to partially determine the genetic admixture of an individual. However, each individual human may express the same gene differently than another, and each individual is partially a unique mix of genes unlike any other.


The field is sometimes controversial because of the ethical issues raised by DNA profiling and race theories that can be abused for political and social ends. Some critics argue that biogeographic ancestry is simply a means of [[reification]] for a [[social construct]]. The number of categories and the criteria used to group humans is also very arbitrary and often based on [[customs]] or [[traditions]]. The results are also only probable, with many individual exceptions.


==Human genetic variation==
Opponents{{Who|May 21, 2007}} of racial groupings argue that a distinct difference is only one of the two conditions for racial classification; the second condition is a lack of significant [[gene flow]] between populations. Humans are classified as monotypic, because phenotypes gradually fade into one another in many parts of the world. Although there has historically been little or no gene flow between some human populations such as the aboriginal Australians and black Africans, they argue, one cannot assume there has been little interracial gene flow, as the interbreeding of locally adjacent populations may produce common traits. Some researchers report enough such gene flow has occurred that the [[most recent common ancestor]] of all humans alive today may have lived as recently as 3,500 years ago, the work also estimated that everyone alive 7400 years ago was either an ancestor of all humans alive today, or of nobody currently living, before this time all humanity alive today share exactly the same ancestors.<ref>Rohde ''et al.'' (2004)</ref> although critics say this is not necessarily ''significant'' gene flow.{{Fact|date=March 2007}}
The human genome project found that genetically humans are very similar. The most common polymorphisms (or genetic differences) in the human genome are single base-pair differences. Scientists call these differences SNPs, for single-nucleotide polymorphisms. About 99.9% of the human genome is identical in all humans. On average there is only 0.1% difference, which implies that any the genomes of any two random humans are expected to differ by about 3 million base pairs. Of this 0.1% difference, 85% is found within any given population, 7 % is found between populations within a race and only 8% is found on average between the various races. Thus there is more genetic diversity within a race than between various races. Compared with other species the amount of genetic diversity among humans is relatively small. For example two random chimpanzee are expected to differ by about 500 DNA base pairs, equivalent to double the diversity amongst humans. This indicates that chimpanzees have existed as a species much longer than humans<ref>[http://science.education.nih.gov/supplements/nih1/genetic/guide/genetic_variation1.htm understanding human genetic variation]</ref>.


===Genetics===
An alternative to the use of racial or ethnic categories is to categorize individuals in terms of ancestry. Ancestry may be defined geographically (e.g., Asian, sub-Saharan African, or northern European), geopolitically (e.g., Vietnamese, Zambian, or Norwegian), or culturally (e.g., Brahmin, Lemba, or Apache). The definition of ancestry may recognize a single predominant source or multiple sources. Ancestry can be ascribed to an individual by an observer, as was the case with the U.S. census prior to 1960; it can be identified by an individual from a list of possibilities or with use of terms drawn from that person's experience; or it can be calculated from genetic data by use of loci with allele frequencies that differ geographically, as described above. At least among those individuals who participate in biomedical research, genetic estimates of biogeographical ancestry generally agree with self-assessed ancestry (Tang ''et al.'' 2005), but in an unknown percentage of cases, they do not (Brodwin 2002; Kaplan 2003).


Most of this genetic variation is found in the "[[junk DNA]]" . Scientists estimate that up to 97% of the human genome is junk DNA. This entails that the actual genes, that do function, vary much less. The reason for this is that mutations that occur in the Junk DNA have no effect and are referred to as selectively neutral. Whereas mutations that occur in the actual genes are subject to the rigors of natural selection. If the mutation has strong adverse effect it is quickly eliminated from the population as the affected organism does not survive or does not reproduce. For example it has been estimated that 20% of all conceptions end in miscarriages in the few days following fertilization. This is because of mutations in the genes that are harmful to the fetus. The net effect is that these mutations in the actual genes are not passed on to subsequent generations. On the other hand mutations in the junk DNA are free to accumulate with time.
Genetic data can be used to infer population structure and assign individuals to groups that often correspond with their self-identified geographical ancestry. The inference of population structure from multilocus genotyping depends on the selection of a large number of informative genetic markers. These studies usually find that groups of humans living on the same continent are more similar to one another than to groups living on different continents. Many such studies are criticized for assigning group identity ''[[A priori and a posteriori (philosophy)|a priori]]''. However, even if group identity is stripped and group identity assigned ''[[a posteriori]]'' using only genetic data, population structure can still be inferred. For example, using 993 markers, Rosenberg ''et al.'' (2005) were able to assign 1,048 individuals from 52 populations around the globe to one of six genetic clusters, which correspond to major geographic regions.


However, in analyses that assign individuals to group it becomes less apparent that self-described racial groups are reliable indicators of ancestry. One cause of the reduced power of the assignment of individuals to groups is [[wiktionary:admixture|admixture]]. Some racial or ethnic groups, especially American [[Hispanic]] groups, do not have homogenous ancestry. For example, self-described [[African Americans]] tend to have a mix of West African and European ancestry. Shriver ''et al.'' (2003) found that on average African Americans have ~80% African ancestry. Also, for example, ~30% of students who self identified as white in a Northeastern US college have less than 90% European ancestry.


Since mutations in junk DNA occur much faster than in the genes, they accumulate much faster in local populations. This is useful to population geneticists who can use these SNPs to distinguish various populations. [[Ancestry-informative marker]] are stretches of DNA which have several polymorphisms that exhibit substantially different frequencies between the different populations. Using these AIMs scientists can determine a persons continent of origin based solely on their DNA. AIMs can also be used to determine someones admixture proportions<ref>{{cite web| last = Lewontin| first = R.C.| authorlink =Richard Lewontin| title = Confusions About Human Races| url=http://raceandgenomics.ssrc.org/Lewontin/}}</ref>.
Nevertheless, recent research indicates that self-described race is a near-perfect indicator of an individual's genetic profile, at least in the United States. Using 326 genetic markers, Tang ''et al.'' (2005) identified 4 genetic clusters among 3,636 individuals sampled from 15 locations in the United States, and were able to correctly assign individuals to groups that correspond with their self-described race (white, African American, East Asian, or Hispanic) for all but 5 individuals (an error rate of 0.14%). They conclude that ancient ancestry, which correlates tightly with self-described race and not current residence, is the major determinant of genetic structure in the U.S. population.


Genetic variation is found also in genes but at present this variation is poorly understood. Much of the variation is found the regions of the genome affected by the environment. A notable example is is genes affecting physical appearance and in particular [[human skin color|skin color]]. Many of the genes regulating physical appearance have yet to be discovered.
Geneticist [[Neil Risch]] from [[Stanford University]] and 3 other scientists commented on this in their study: "More recently, a survey of 3,899 SNPs in 313 genes based on US populations (Caucasians, African-Americans, Asians and Hispanics) once again provided distinct and non-overlapping clustering of the Caucasian, African-American and Asian samples...The results confirmed the integrity of the self-described ancestry of these individuals" Populations in their research "clustered into the five continental groups"<ref>Neil Risch, Esteban Burchard, Elad Ziv and Hua Tang, '''Categorization of humans in biomedical research: genes, race and disease''' [http://genomebiology.com/2002/3/7/comment/2007]</ref>
Genes related to the immunity system also show great variability with geographic location as a result of positive selection from the effects of regional diseases.


==Models of genetic variation==
Genetic techniques that distinguish ancestry between continents can also be used to describe ancestry within continents. However, the study of intra-continental ancestry may require a greater number of informative markers. Populations from neighboring geographic regions typically share more recent common ancestors. As a result, [[allele frequency|allele frequencies]] will be correlated between these groups. This phenomenon is often seen as a cline of allele frequencies. The existence of [[allele|allelic]] clines has been offered as evidence that individuals cannot be allocated into [[haplogroups|genetic clusters]] (Kittles & Weiss 2003). However, others argue that low levels of differentiation between groups merely make the assignment to groups more difficult, not impossible (Bamshad ''et al.'' 2004).
{| class="wikitable" align="right" width="280px"
|+''' Percentage genetic distances among major continents based on 120 classical polymorphisms '''
! ||Africa || Oceania || East Asia || Europe
|-
|Oceania || 24.7 || || ||
|-
|East Asia || 20.6 || 10 || ||
|-
|Europe || 16.6 || 13.5 || 9.7 ||
|-
|America || 22.6 || 14.6 || 8.9 || 9.5
|}
There are several methods used to model human genetic variation. [[Genetic distance]] is a measure used to quantify the genetic differences between two populations. It is based on the principle that two populations that share similar frequencies of a trait are more closely related than populations that have more divergent frequencies of a trait. In its simplest form it is the difference in frequencies of a particular trait between two populations. For example the frequency of RH negative individuals is 50.4% among [[Basques]] is 41.2% in France and 41.1 in England. Thus the genetic difference between the Basques and French is 9.2% and the genetic difference between the French and the English is 0.1%for the RH negative trait<ref name="CavalliSforza">[Genes, Peoples, and Languages
By L. L. (Luigi Luca) Cavalli-Sforza ISBN 0520228731 ]</ref>.


When only one trait is consider it often results in two very distant populations having little or no genetic difference. For example the frequency of blood group B allele in Russia is the same as in Madagascar indicating zero value for genetic distance. To adjust for these instances it is thus necessary to average values over several genetic systems. As DNA of all humans is 99.9 percent the same the vast majority of traits show little genetic distance between the continents. However for a the few traits that are highly [[polymorphic]] genetic distances can be calculated and used to create phylogenetic relationships.
Also, clines and clusters, seemingly discordant perspectives on human genetic diversity may be reconciled. A recent comprehensive study has stated:


[[Image:Oceania africa europe.jpg|thumb|left|250px|An [[Indigenous Australian]] , [[Melanesian]], [[African]] [[European]]. Though Oceanians resemble Africans they are the most genetically distant. Africans are more closely related to Europeans than any other group despite having different skin colors.]]Historically people have chosen spouses from nearby villages. Hence genetic distance is largely related to geographic distance between populations<ref>[http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1276087 Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa]</ref>. Genetic distance may also occur due to physical boundaries that restrict gene flow such as Islands cut off by rising seas.
<blockquote>
At the same time, we find that human genetic diversity consists not only of clines, but also of clusters, which STRUCTURE observes to be repeatable and robust.<ref>Clines, Clusters, and the Effect of Study Design on the Inference of Human Population Structure [http://genetics.plosjournals.org/perlserv/?request=get-document&doi=10.1371%2Fjournal.pgen.0010070]</ref></blockquote>


A study by Cavalli-Sforza using 120 blood polymorphisms provides information on genetic distances of the various continents<ref>[http://www.pnas.org/cgi/content/full/94/15/7719]</ref>.
Despite its seemingly objective nature, ancestry also has limitations as a way of categorizing people (Elliott and Brodwin 2002). When asked about the ancestry of their parents and grandparents, many people cannot provide accurate answers. In one series of focus groups in the state of Georgia, 40% of ∼100 respondents said they did not know one or more of their four grandparents well enough to be certain how that person(s) would identify racially (Condit ''et al.'' 2003). Misattributed paternity or adoption can separate biogeographical ancestry from socially defined ancestry. Furthermore, the exponentially increasing number of our ancestors makes ancestry a quantitative rather than qualitative trait—5 centuries (or 20 generations) ago, each person had a maximum of >1 million ancestors (Ohno 1996). To complicate matters further, recent analyses suggest that everyone living today has exactly the same set of genealogical ancestors who lived as recently as a few thousand years in the past, although we have received our genetic inheritance in different proportions from those ancestors (Rohde ''et al.'' 2004).


The largest genetic distance between any two continents is between Africa and [[Oceania]] at 24.7. Based on physical appearance this may be counterintuitive, since Australians and New Guineans resemble Africans with dark skin and sometimes frizzy hair. This resemblance is probably an example [[convergent evolution]]. This large figure for genetic distance reflects the relatively long Isolation of Australia and New Guinea since the end of the Last glacial maximum when the continent was further isolated from mainland Asia due to rising sea levels.
The delicacy of this definition has left the issue much in debate, especially among physical anthropologists, for if [[cline (population genetics)|cline]]s lead to large areas of near-homogeneity, such as Kenya, Sweden and Japan, then the people in these areas seem marked off by delimiters resembling nothing so much as the traditional physiological touchstones of "race". Currently, the question of whether human genetic variation is better described as clinal (i.e. no races) or cladistic (i.e. races are real) is largely fading.


The next largest genetic distance is between Africa and the Americas at 22.6%. This is expected since the longest geographic distance by land is between Africa and South America. The shortest genetic distance at 8.9% is between Asia and the Americas indicating a more recent separation.
The problem arises of distinguishing black Africans as a racial group; it doesn't work because it is a [[paraphyletic]] classification. In other words, under a phylogenetic classification, considering black Africans as a single racial group would require one to include ''every'' living person on Earth within that single African "race", because the genetic variation of the rest of the world represents essentially a single subtree within that of Africa. Also, it has long been known that groups such as the [[Khoisan]] were as different from other sub-Saharan groups as are Europeans and Asians (though even with the Khoisan the distinction is no longer so clearcut, as a large amount of intermarriage with both Europeans and [[Bantu]]-language speakers has occurred over the last three centuries).


Africa is the most divergent continent with all other groups being more related to each other than to Africa. This is expected in accordance with the [[Recent single-origin hypothesis]]. The population most closely related to Africans are Europeans. This may be counterintuitive based on recent racial tensions between blacks and whites. However this short distance indicates significant interaction and gene exchange between Africa and Europe in the not so distant past.
[[Rachel Caspari]] (2003) argued that clades are by definition monophyletic groups (a taxon that includes ''all'' descendants of a given ancestor); since races are not monophyletic, they cannot be clades.


==Factors influencing genetic diversity==
In the end, the terms "race," "ethnicity," and "ancestry" all describe just a small part of the complex web of biological and social connections that link individuals and groups to each other.
===selection===
[[Positive selection]] plays an important role in shaping genetic variation. Most notably is its role in influencing physical appearance. Dark skin appears to be under strong selection because the protein that causes it varies very little in African populations but is free to vary in populations found outside Africa. This in indication that dark skin was selected to protect against the harmful effects of UV radiation that cause birth defects due to destruction of vitamin b folate. UV radiation also causes sunburn and skin cancer. When people left the sun intensive regions of Africa the protein was free to vary as a result lighter skin color reemerged in populations around the world.<ref>[http://query.nytimes.com/gst/fullpage.html?res=9C03E0DE1030F93AA2575BC0A9659C8B63&sec=health&spon=&pagewanted=2 why humans and their fur parted]</ref>
Immunoglobulins or antibodies are also under strong selection in response to local diseases. For example people who are [[duffy antigen|duffy negative]] tend to have higher resistance to Malaria. Most Africans are duffy negative and most Europeans are duffy positive<ref>[http://sickle.bwh.harvard.edu/malaria_sickle.html]</ref>.


Native Americans are almost exclusively Blood group O at about 98%. Some scientists believe this widespread distribution indicates strong selection, possibly resistance to [[syphilis]]. During the European invasion of the Americas, millions of Native Americans were decimated because of diseases they were not immune to such as smallpox and influenza. Europeans had become resistance to these disease after suffering several series of deadly plagues starting with the [[Black death]]. In turn the Europeans contracted syphilis to which they had no immunity.
==Genetics and the 5 race model==
===Genetic drift===
[[Genetic drift]] is considered the nemesis of Natural selection. It is the random change in gene frequencies between generations. By chance, a few individuals may leave behind more descendants and thus genes than other individuals. The genes of the next generation will be the genes of the “lucky” individuals, not necessarily the healthier or “better” individuals. It is by this mechanism that all humans alive today are all descended from mitochondrial Eve through their maternal line as opposed to any other female contemporary of Eve.


===Founder effect===
Noah A. Rosenberg and Jonathan K. Pritchard, geneticists from the laboratory of Marcus W. Feldman of Stanford University, assayed 377 polymorphisms in more than 1,000 people from 52 ethnic groups in Africa, Asia, Europe and the Americas. They looked at the varying frequencies of these polymorphisms and concluded <blockquote> without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations.<ref>Rosenberg (2002)</ref></blockquote><blockquote>we found that individuals could be partitioned into six main genetic clusters, five of which corresponded to Africa, Europe and the part of Asia south and west of the Himalayas, East Asia, Oceania, and the Americas<ref>Rosebberg (2005)</ref></blockquote> Dr. [[Neil Risch]] of Stanford University has shown that self identified ethnic identity correlates with genetic structure, this is different to the previous study in that groups were pre-sorted by self-identification. <blockquote>Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories.<ref>Tang (2005)</ref></blockquote>
[[Image:Founder_effect.png|thumb|right|Simple illustration of founder effect. The original population is on the left with three possible founder populations on the right.]]
The [[founder effect]] is the establishment of a new population by a few original founders which carry only a small fraction of the total genetic variation of the parental population. As a result, the new population may be distinctively different, both genetically and phenotypically, from the parent population from which it is derived. Some scientists speculate that the ubiquity of Blood group O amongst native Americans is an example of a strong founder effect. They argue that a small band of Asian people who crossed the Bering strait into Alaska may have been predominantly Blood group O.

Founder effects are notable following the colonization of Islands. The crania of Indigenous Australians is one of the most differentiated from other populations and is the most easily identified due to more prominent [[brow ridges]]. Since the crania shows little variability amongst Australians some scientists believe it arose from a founding effect<ref>[http://www.amazon.com/gp/reader/052102031X/ page 326]</ref>.
===Gene flow between continents===
Gene flow is the exchange of genes from one population to another. Gene flow has the effect of reducing the genetic distance between two populations.Since genes are exchanged between neighboring populations many traits are distributed along [[Cline (population genetics)|clines]]. The boundaries of the major continents may in some cases restrict gene flow, allowing for genetic differentiation.

However many of the political divisions of today are not naturally occurring and in the past have not restricted gene flow. Europe and Asia are in fact the single continent of Eurasia. This would explain the relatively small genetic distance of 9.7% as calculated by Cavalli-Sforza.

Controversially North Africa is sometimes included as Part of Eurasia. Northeast Africa is adjacent to Saudi Arabia and thus Africans have a long history of interaction with the middle east. Populations in the horn of Africa have significant Arab admixture. African mitochondrial DNA haplotypes are also frequent in the Middle east. Across the Sahara from Sudan to Senegal interactions between blacks and Arabs have resulted in significant gene exchange between the populations. 20% of North Africans have sub-saharan African mitochondrial DNA haplogroups. During the 8th century the Moors from North Africa conquered the [[Iberian peninsula]], in the process they would have brought [[Sub-Saharan DNA admixture in Europe|African admixture]] to Europe. Studies have shown about 4% of the population in spain and portugal have sub-saharan mtDNA haplogroups. This is clinally distributed across europe from southwest to North east with Northern Europe showing no presence.

Africa is the most genetically divergent continent. However the most closely related population to Africa based on genetic distance is Europe at 16.6%. This may be counterintuitive based on different skin colors. Independent evolution on the different continents would result in equal genetic distances between africa and the other continents. However this low figure of 16.6( relative to australia 24.7, and America 22.6%) indicates that there has been substantial interaction and exchange of genes between Africa and Europe. Cavalli-Sforza estimates that Europeans are mixed race population, one third African and two thirds Asian<ref name="CavalliSforza" /><ref>[http://www.pnas.org/cgi/content/full/94/15/7719]</ref>.

[[Joseph Greenberg]] classified American languages into three large families. He proposed that these families represent three separate migrations that filled the Americas in the order they arrived. These seperate migrations across the Bering strait would have continued to bring new genes from Asia thus reducing the genetic distance between Asia and America.

Australasia is largely considered to be the most isolated continent. It was occupied at least 40,000 years ago when sea levels were much lower and the shortest distance between Indonesia and Australia was a 90km sea voyage. 20,000 years ago at the end of the last Glacial Maximum, sea levels rose due to melting ice sheets flooding much of Australia's coastline and increasing its geographic isolation from Asia. Tasmania was cut off from Australia 10,000 years ago making it the most isolated region. These obstacles significantly restricted gene flow to indigenous Australasians. Second to Africa Australasia is most genetically divergent continent by genetic distance. However evidence suggests that even with Australasia gene flow has been taking place. Fossils of the [[Dingo]] in Australia have been dated to only 3500 years ago indicating that it was recently introduced. The dingo is native to India. Some Y chromosomal studies indicate a recent influx of y chromosomes from the Indian subcontinent<ref>[http://nitro.biosci.arizona.edu/zdownload/papers/CurrentBiology.pdf]</ref>. More recently fisherman from [[Macassan contact with Australia|Makassar]] in Indonesia regularly made contact with Indigenous Australians from possibly as early as 1000 CE.

==Sexual selection==
[[Sexual selection]] is a controversial theory that competition for mates between individuals of the same sex drives the evolution of certain traits. [[Neoteny]] is a term that describes the retention of infant like characteristics through adulthood. Some scientists believe sexual selection for certain neotenous traits has been a driving force in differentiating various populations. These traits include less hairy skin, more delicate skin, thinness of skull bones and a gracile skeleton. The so named "Mongoloid" skeleton is the most gracile skeleton. Gracile is defined as low bone thinness relative to length and is contrasted with a robust skeleton. Worldwide the skeletons of all populations have undergone considerable gracilization in the last 10000 years<ref>[http://books.google.com/books?hl=en&lr=&id=EoTXLpEX-h4C&oi=fnd&pg=PP11&dq=neoteny+mongoloids&ots=mRQTW6EOV5&sig=khWC2Wcn7ohzc0h27bf04ifLD1U#PPA42,M1 growing young Ashely Montagu]</ref>.

==Recent Admixture==
[[Miscegenation]] between two populations reduces the genetic distance between the populations.
During the [[Age of Discovery]] which began in the early 15th century, Europeans explorer sailed all across the globe reaching all the major continents. In the process the came into contact with many populations that had been isolated for thousands of years. It is generally accepted that the [[Tasmanian aboriginal]]s were the most isolated group on the planet. They were driven to extinction by European explorers, however a number of their descendants survive today as a result of admixture with Europeans. This is an example of how modern migrations have began to reduce the genetic divergence of the human race.

The demographic composition of the [[old world]] has not changed significantly since the age of discovery. However the [[new world]] demographics were radically changed within a short time following the voyage of Columbus. The colonization of Americas brought Native Americans into contact with the distant populations of Europe, Africa and Asia. As a result many countries in the Americas have significant and complex multiracial populations. Furthermore many who identify themselves by only one race still have multiracial ancestry.

===Admixture in the United States===
Today the vast majority of African Americans possess varying degrees of European and Native American admixture. Some estimates put average European Admixture at 25% with figures as high as 50% in the Northeast and less than 10% in the south. On the other hand about a third of White Americans, approximately 74 million, have African admixture ranging from 2% to 20%. Studies based on skin reflectance have shown the the color line in the US applied selective pressure on genes that code for skin color but did not apply any selective pressure on other invisible African genes. Since there are an estimated 6 alleles involved for skin color it is possible for a someone to have 15-20 % African admixture and not possess any of the alleles that code for dark skin. This is the basis of the [[Passing (racial identity)|passing]] phenomena. Thus African admixture amongst white Americans can increase without any significant change in skin tone. Conversely amongst African Americans amount of African Admixture is directly correlated with darker skin since no selectionary pressure is applied. As a result African Americans may have a much wider range 0-100% of admixture, whereas European Americans have a lower range 2-20%. A small overlap exists so that it is possible that someone who self identifies as [[white people|white]] may have more African admixture than a person who self identifies as [[black|black people]]
<ref>ISBN 0939479230 legal History of the Color Line: The Notion of Invisible Blackness,
By Frank W. Sweet</ref><ref>[http://backintyme.com/essays/?p=5 afro European admixture]</ref>

===Admixture in Latin America===


{| class="wikitable" align="right"
|+ Evidence for sex biased mating in the White population of some Latin American countries
! rowspan="2" | Country || colspan="2" align="center"| Amerindian || colspan="2" align="center"| African
|-
! mtDNA ||Y-chromosome || mtDNA || y-chromosome
|-
|Brazil || 33% || 0% || 29% || 2%
|-
|Argentina || 45% || 9% || ns || ns
|-
|Chile || 84% || 22% || ns || ns
|-
|Colombia || 90% || 1% || 8% || 5%
|-
|Costa Rica || 83% || 6% || ns || 7%
|}
Unlike in the United States there were no anti-miscegenation policies in Latin America. Though still a racially stratified society there were no significant barriers to gene flow between the three populations. As a result admixture profiles are a reflection of the colonial populations of Africans, Europeans and Amerindians. The pattern is also sex biased in that the African and Amerindian maternal lines are found in significantly higher proportions than African or Amerindian Y chromosomal lines. This is an indication that the primary mating pattern was that of European males with Amerindian or African females. For example a study of white Brazilians found 33% had Amerindian mtDNA and 29% had African mtDNA. However only 2% had African y chromosomes and 0% Amerindian. According to the study more than half the white populations of the Latin American countries studied have either native American or African admixture. In countries such as Chile and Colombia almost the entire white population has non-white admixture.<ref>[http://www.funpecrp.com.br/gmr/year2007/vol2-6/gmr0330_full_text.htm]</ref><ref>[http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1287189 ancestry of Brazilian mtDNA lineages]</ref><ref>The Evolution and Genetics of Latin American Populations By Maria Cátira Bortolini, Francisco M. Salzano ISBN 0521652758</ref>.
Following the dispersal of Humans from Africa 50,000 years ago South America was the last continent to be occupied by humans. Thus the largest geographic distance between continents is between Africa and South America. Since genetic distance increases with geographic distance the two most genetically divergent groups are Africans and Native South American Indians based on distance. The arrival of Africans in Brazil and subsequent mixing with native south Americans entails the creation of intermediate populations, such as the [[Zambo]] or [[Garifuna]] between the two divergent groups.


==Defining race==
The 0.1% genetic difference that differentiates any two random humans is still the subject of much debate. The discovery that only 8% of this difference separates the major races led some scientists to proclaim that race is biologically meaningless. They argue that since genetic distance increases in a continuous manner any threshold or definitions would be arbitrary. Any two neighboring villages or towns will show some genetic differentiation from each other and thus could be defined as a race. Thus any attempt to classify races would be imposing an artificial discontinuity on what is otherwise a naturally occurring continuous phenomenon.

However other scientists disagree claiming that the assertion that race is biologically meaningless is politically motivated and that genetic differences are significant. [[Neil Risch]] states that numerous studies over past decades have documented biological differences among the races with regard to susceptibility and natural history of a chronic disease.

===Clusters controversy===
A computer program called STRUCTURE is used by some scientists to determine clusters of Human populations. It is a statistical program that works by placing individuals into a number of predefined clusters based on their overall genetic similarity. These predefined clusters are based on genetic markers whose frequencies are already known to vary significantly amongst the races. The notion of a genetic cluster is that people within the cluster are significantly more related to each other than to those in other clusters.

A study by Noah A. Rosenberg and Jonathan K. Pritchard, geneticists from the laboratory of Marcus W. Feldman of Stanford University, assayed 377 polymorphisms in more than 1,000 people from 52 ethnic groups in Africa, Asia, Europe and the Americas. They concluded that without using prior information about the origins of individuals, they were able to identify six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. The clusters corresponded to Africa, Europe and the part of Asia south and west of the Himalayas, East Asia, Oceania, and the Americas.

Another study by Risch of 3,899 SNPs in 313 genes based on US populations (Caucasians, African-Americans, Asians and Hispanics) once again showed distinct and non-overlapping clustering of the Caucasian, African-American and Asian samples. According to the study the results confirmed the integrity of the self-described ancestry of these individuals since the populations in their research "clustered into the five continental groups.

===Criticism of the clusters study===
Though the authors of the study do not equate the clusters with race there are some who view the studies on clusters as evidence of the existence of biological races. Hence these studies have attracted considerable controversy. Critics argue that using genetic information to determine an individuals continent of origin is not a new concept. Using The ABO, RH an MNS blood groups scientist in the 1950's could already determine continent of origin based on known frequencies of these trait.

Critics argue that any attempt to divide humanity will always produce artificial results. They point to the fact that in the study when six clusters were used an additional cluster(race) appeared which comprised solely of the [[Kalash]] of Pakistan. Several groups in the study also appeared in two races such as Ethiopians, [[Hazara]] of Pakistan [[Uygur]] from Pakistan and western China. [[Joseph Graves]] argues that in the study the people sampled were from regions separated by large distances such as South African Bantu and Russians. He argues that if more people came from the regions that bridge the continents results may have been different. Examples such as [[Armenians]] would cluster both with Asia and Europe. [[Somalian]] or [[Yemenite]]s may cluster both with Africa and Europe.

Others say bulk of human variation is continuously distributed and, as a result, any
categorization schema attempting to meaningfully partition that variation will necessarily
create artificial truncations. It is for this reason, they argue, that attempts to allocate
individuals into ancestry groupings based on genetic information have yielded varying results
that are highly dependent on methodological design<ref>[http://paa2006.princeton.edu/download.aspx?submissionId=61713 Back with a Vengeance: the Reemergence of a Biological Conceptualization of Race
in Research on Race/Ethnic Disparities in Health
Reanne Frank]</ref>.

[[Nicholas Wade]] who often sites the work of clusters in articles for the [[New York Times]] says that even if individuals can be assigned to continent of origin based their [[genotype]] (genes), this is not an indication of [[phenotype]]. This is because the SNPs used in the clustering study are selectively neutral ie stretches of [[Junk DNA]] that have no known function. Since they do not code for any protein or have regulatory function, mutations can occur without interfering in normal cell function. Over time these mutations can accumulate much quicker in local populations and thus they can be used to identify continent of origin. Therefore these SNPS that can be used to differentiate continental populations are not known to influence intelligence, behavior, susceptibility to disease or ability in sports. Wade argues that it is possible that even though the sites used are nonworking sections of DNA, mutations in them may be serve as a proxy for mutations in genes that influence intelligence and behaviour. However he admits that at the moment there is no known relationship between mutations in junk DNA and mutations in genes.

==Complexities of the human genome==
Though a blueprint for the entire human genome was made available by the [[Human genome project]], much of how the human genome works is still a mystery. Scientists are still grappling with conundrum of how as few as 20,000 genes are responsible for all the complexities of the human body<ref>[http://news.bbc.co.uk/2/hi/science/nature/1164792.stm]</ref>. Thus many scientists argue that until much more is learned about the human genome it will be premature to any assumptions about racial differences.

===Heritability===
[[Heritability]] is the degree to which a characteristic is determined by genetics.
Mendelian traits are those that are controlled by a single gene. Examples include [[dimples]], [[sickle cell disease]] and [[cystic fibrosis]]. These traits follow the basic rules of [[Mendelian inheritance]]. The heritability of Mendelian traits is very high. For these traits it is possible for scientists to identify and locate the exact gene responsible for trait and make accurate predictions about outcomes.

However many traits are [[polygenic]] in that they depend on many genes. In a population these traits will show a continuous distribution on a bell curve. Examples include height. If it were controlled by only one allele people would either be tall or short, instead we see a wide range of heights. Skin color is also polygenic.

Polygenic traits can be multifactorial meaning that they depend on a complex interplay with other genes and the environment. Examples include Cancer, the outcome of which is determined by the interplay between cancer causing genes, cancer suppressing genes and environmental factors such as pollution or smoking. Complex traits like behavior and intelligence are very likely multifactorial. The heritability of multifactorial traits is generally much lower than those of single gene traits. Some scientists prefer not to see these traits as genetic but instead refer to inheriting a predisposition to developing the trait<ref>[http://science.education.nih.gov/supplements/nih1/genetic/guide/genetic_variation2.htm Understanding human genetic variation]</ref>.

===The genome and intelligence===
It has been argued that in order to make a hypothesis for race and intelligence work the genes for intelligence need to be identified and the frequencies in the various races computed. However recent studies attempting to find loci in the genome relating to intelligence have had little success. Using several hundreds of people a study of 1842 DNA markers from a high IQ group with an IQ of 160 and a control group with an IQ of 102. The study used a five step inspection process to eliminate [[false positive]]s. By the fifth step the study could not find a single gene that was related to intelligence. <ref>[http://www.meb.ki.se/education/epi/descriptions/gen_mol_epi/cognitive_paper.pdf A Genome-Wide Scan of 1842 DNA Markers for Allelic Associations With General Cognitive Ability: A Five-Stage Design Using DNA Pooling and Extreme Selected Groups]</ref>.
The failure to find a specific gene associated with intelligence indicates that cognitive abilities are very complex and are likely to involve several genes. Some estimate that as much as 40% of the genome may contribute to intelligence. The more genes that contribute to a trait the less likely that a trait can be race specific since most genetic variation is found within a race. The more genes that contribute to a trait the more the trait will be continuous instead of discrete, with smaller differences.
In the US, Critics of these studies say that as long as social and environmental disparities between the races exist it will be impossible to scientifically test whether there are any genetic differences in IQ between the various populations. They propose that if the historical effects of poverty and social bigotry were eliminated and differences in IQ between the races still persisted then there might be some utility in such research.

===Genetic heterogeneity===
[[Genetic heterogeneity]] is used to describe the presence of different genes that produce same trait. For example the gene that causes light skin in Europeans is different than the gene that causes light skin in East Asians. Europeans have a different version of the [[SLC24A5]] than East Asians indicating that they evolved light skin independently.

In a recent asthma study found that genes that defined susceptibility to asthma in blacks were different than the genes defined susceptibility in whites which were again different for the genes that defined defined susceptibility to asthma in Hispanics.

This concept indicates that in some cases having a different genotype does not necessarily mean having a different phenotype.

===Epigenetic inheritance===
[[Epigenetic inheritance]] describes a phenomenon where traits are passed on to the next generation based on environmental effects or experience. These traits are inherited without being written into the DNA sequence. In some cases traits are passed on to the next generation by the switching off or on of various genes that are already present. The implication of this is that having the same genotype at a locus does not necessarily mean having the same phenotype.

==Modern civilization and genetics==
The global rise of modern civilization and technology can largely be traced to recent advances that took place in western europe. Author [[Jared Diamond]] tackles the question of why Europeans colonized much of the world instead of the other way around in his book [[Guns germs and steel]]. According to Diamond, in the centuries after 1500 when European explorers came into contact with peoples around the world they became aware of wide differences in the use of technology and political organization. They assumed that those difference arose from differences in innate biological ability. Darwinian evolution viewed the "primitive societies" to be vestiges of human descent from apelike ancestors. Finally in the 20th century with the rise of genetics Europeans came to be viewed as genetically superior than Africans and Australian aboriginals.

He argues that in western societies racism is publicly denounced but privately or subconsciously many still hold the view that the rise of western civilization was at least in part due to genetic advantages. Diamond controversially holds the view that the rise of western civilization is linked to geography and environment. He argues that the presence of wild ancestors to of wheat and barley, two of the most nutritious cereals, in Eurasia and the presence of 12 out of 14 of the worlds domesticable large mammals gave Eurasia a head start over the rest of the world. He argues that Eurasia is the largest continent and its East-west extent meant similar climatic conditions. This facilitated the easy exchange of crops, Knowledge and technology.

However some scholars disagree with this philosophy. Recently scientists identified two genes, [[microcephalin]] and [[ASPM]] that are associated with brain size. These genes are found at high frequencies in European and asian populations indicating strong selection but they are not found amongst Africans. Some report that microcephalin arose some 37,000 years ago coinciding with upper paleolithic transitions in Europe. They thus believe these two genes conferred some cognitive abilities upon europeans and asians<ref>[http://www.nytimes.com/2005/09/09/science/09brain.html?ex=1182139200&en=2fe58cf014a688dc&ei=5070 Brain May Still Be Evolving, Studies Hint]</ref>. These studies have been criticized saying it was far from clear that the new alleles conferred any cognitive advantage or had spread for that reason. A recent study found that the adaptive value of microcephalin and aspm is not explained by increased intelligence<ref>[http://hmg.oxfordjournals.org/cgi/content/abstract/ddl487v1 The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence]</ref>.


==See also==
==See also==
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==Footnotes==
==Footnotes==
{{reflist}}
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==References==
==References==
* Avise, J.C., Ball, R.M. 1990. Principles of genealogical concordance in species concepts and biological taxonomy. Oxford Surveys in Evolutionary Biology 7:45-67.
* Bamshad M., Wooding, S., Salisbury, B. A. and Stephens, J. C. (2004). ''[http://shrn.stanford.edu/workshops/revisitingrace/Bamshadetal2004.pdf Deconstructing the relationship between genetics and race]''. '''Nature Reviews Genetics,''' Vol 5 pp. 598-605. Retrieved 28 December 2006.
*{{cite journal|author=Bamshad M.|title=Genetic Influences on Health: Does Race Matter? | journal=Journal of the American Medical Association | year=2005 | volume=294 | pages=937-946}}
* {{cite journal
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* Dobzhansky, T. (1970). Genetics of the Evolutionary Process. New York, NY: Columbia University Press.
* Edwards, A., W., F. (2003) ''Human genetic diversity: Lewontin’s fallacy. BioEssays'' '''25:'''798–801, ß. [http://www.goodrumj.com/Edwards.pdf Full PDF version]
* Edwards, A., W., F. (2003) ''Human genetic diversity: Lewontin’s fallacy. BioEssays'' '''25:'''798–801, ß. [http://www.goodrumj.com/Edwards.pdf Full PDF version]
*{{cite journal|author=Fernández JR, Shriver MD, Beasley TM, Rafla-Demetrious N, Parra E, Albu J, Nicklas B, Ryan AS, McKeigue PM, Hoggart CL, Weinsier RL, Allison DB| title=Association of African Genetic Admixture with Resting Metabolic Rate and Obesity Among Women | journal=Obesity Research | year=2003 | volume=11 | pages=904-911}}
* {{cite journal | author = Helms, J. E., Jernigan, M. and Mascher, J. | year = 2005 | month = Jan | title = The Meaning of Race in Psychology and How to Change It: A Methodological Perspective | journal = American Psychologist | volume = 60 | issue = 1 | pages = 27-36 | doi = 10.1037/0003-066x.60.1.27 | url = http://www.apa.org/journals/releases/amp60127.pdf }}
* {{cite journal | author = Helms, J. E., Jernigan, M. and Mascher, J. | year = 2005 | month = Jan | title = The Meaning of Race in Psychology and How to Change It: A Methodological Perspective | journal = American Psychologist | volume = 60 | issue = 1 | pages = 27-36 | doi = 10.1037/0003-066x.60.1.27 | url = http://www.apa.org/journals/releases/amp60127.pdf }}
* Jackson, F. L. C. (2004). Book chapter: ''[http://cshd.tamu.edu/pdfFiles/jackson.pdf Human genetic variation and health: new assessment approaches based on ethnogenetic layering]'' '''British Medical Bulletin 2004; 69: 215–235''' DOI: 10.1093/bmb/ldh012. Retrieved 29 December 2006.
* Jackson, F. L. C. (2004). Book chapter: ''[http://cshd.tamu.edu/pdfFiles/jackson.pdf Human genetic variation and health: new assessment approaches based on ethnogenetic layering]'' '''British Medical Bulletin 2004; 69: 215–235''' DOI: 10.1093/bmb/ldh012. Retrieved 29 December 2006.
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* Leroy, A. M. (2005). ''A Family Tree in Every Gene''. Published: March 14, 2005, The New York Times, p. A23. [http://raceandgenomics.ssrc.org/Leroi/]. Retrieved 08 January 2006.
* Leroy, A. M. (2005). ''A Family Tree in Every Gene''. Published: March 14, 2005, The New York Times, p. A23. [http://raceandgenomics.ssrc.org/Leroi/]. Retrieved 08 January 2006.
* Long and Kittles (2003). ''Human genetic variation and the nonexistence of human races'': '''Human Biology, V. 75, no. 4, pp. 449-471. [http://muse.jhu.edu/journals/human_biology/v075/75.4long.pdf PDF]. Retrieved 10 January 2007.
* Long and Kittles (2003). ''Human genetic variation and the nonexistence of human races'': '''Human Biology, V. 75, no. 4, pp. 449-471. [http://muse.jhu.edu/journals/human_biology/v075/75.4long.pdf PDF]. Retrieved 10 January 2007.
Leopards (Panthera pardus): Molecular Genetic Variation. Conservation Biology 10:1115-1132.
* Mayr, E. (1969). Principles of Systematic Zoology. New York, NY: McGraw-Hill.
* Miththapala, S., Seidensticker, J., O’Brien, S.J. 1996. Phylogeographic Subspecies Recognition in Leopards (Panthera pardus): Molecular Genetic Variation. Conservation Biology 10:1115-1132.
* O’Brien, S.J., Mayr, E. 1991. Bureaucratic Mischief: Recognizing Endangered Species and Subspecies. Science. 2 51:1187-1188.
* Parra, Kittles and Shriver. (2004) ''Implicatins of correlations between skin color and genetic ancestry for biomedical research''''Nature Genetics Supplement'' '''36:''' 11 S54-S60 {{doi|10.1038/ng1440}}
* Parra, Kittles and Shriver. (2004) ''Implicatins of correlations between skin color and genetic ancestry for biomedical research''''Nature Genetics Supplement'' '''36:''' 11 S54-S60 {{doi|10.1038/ng1440}}
* * Pigliucci, Kaplan ''On the Concept of Biological Race and Its Applicability to Humans'' [http://www.journals.uchicago.edu/PHILSCI/journal/issues/v70n5/700525/700525.web.pdf]
* * Pigliucci, Kaplan ''On the Concept of Biological Race and Its Applicability to Humans'' [http://www.journals.uchicago.edu/PHILSCI/journal/issues/v70n5/700525/700525.web.pdf]
* {{cite journal | author = Risch, N., Burchard, E., Ziv, E. and Tang, H. | year = 2002 | month = | title = Categorization of humans in biomedical research: genes, race and disease | journal = Genome Biology | volume = 3 | issue = 7 | pages = comment2007.2001 - comment2007.2012 | id = | url = http://genomebiology.com/2002/3/7/comment/2007 }}
* {{cite journal | author = Risch, N., Burchard, E., Ziv, E. and Tang, H. | year = 2002 | month = | title = Categorization of humans in biomedical research: genes, race and disease | journal = Genome Biology | volume = 3 | issue = 7 | pages = comment2007.2001 - comment2007.2012 | id = | url = http://genomebiology.com/2002/3/7/comment/2007 }}
*Race, Ethnicity, and Genetics Working Group, National Human Genome Research Institute. (2005) ''The Use of Racial, Ethnic, and Ancestral Categories in Human Genetics Research Am. J. Hum. Genet.'' '''77:'''000–000
*Rohde, Olson and Chang (2004) ''Modelling the recent common ancestry of all living humans Nature'' '''431''': 562-566 {{doi|10.1038/nature02842}}. Retrieved 05 March 2007.
*Rohde, Olson and Chang (2004) ''Modelling the recent common ancestry of all living humans Nature'' '''431''': 562-566 {{doi|10.1038/nature02842}}. Retrieved 05 March 2007.
*Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, et al. (2002) ''Genetic structure of human populations. Science'' '''298:''' 2381–2385.[http://www.sciencemag.org/cgi/content/abstract/298/5602/2381 Abstract]
*Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, et al. (2002) ''Genetic structure of human populations. Science'' '''298:''' 2381–2385.[http://www.sciencemag.org/cgi/content/abstract/298/5602/2381 Abstract]
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| url = http://www.apa.org/journals/releases/amp60116.pdf
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}}
}}
*Tang, Hua., Tom Quertermous, Beatriz Rodriguez, Sharon L. R. Kardia, Xiaofeng Zhu, Andrew Brown,7 James S. Pankow,8 Michael A. Province,9 Steven C. Hunt, Eric Boerwinkle, Nicholas J. Schork, and Neil J. Risch (2005) ''Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies Am. J. Hum. Genet.'' '''76:'''268–275.
* Templeton, A.R. (1998). Human races: A genetic and evolutionary perspective. Am. Anthropol. 100, 632–650.[http://links.jstor.org/sici?sici=0002-7294%28199809%292%3A100%3A3%3C632%3AHRAGAE%3E2.0.CO%3B2-7&size=LARGE Partial access to article]. Retrieved 01 January 2007.
* Travassos, C. and Williams, D. R. (2004). ''The concept and measurement of race and their relationship to public health: a review focused on Brazil and the United States'': '''Cadernos de Saúde Pública''' v.20 n.3. {{doi|10.1590/S0102-311X2004000300003}}
*{{cite journal | author = Tishkoff SA, Kidd KK. | title = Implications of biogeography of human populations for 'race' and medicine | author = Nature Genetics | volume=36 | pages=S21 - S27 | year=2004}}


==External links==
==External links==

Revision as of 05:22, 17 June 2007


In the last few centuries science has had an important influence on everyday notions of race. Commonly referred to in today's society are four to five racial groups, each with millions of people. The influence of early scientists resulted in beliefs about race that assumed that racial categories reflect dramatic, underlying, essential differences among racial groups. To many observers, individuals of different races look and act very differently from each other. They attribute these differences to the underlying genetic differences between the various groups.

Interest in race and genetics

There are several reasons why people today are interested in the genetics of race.

Ethnocentrism

Ethnocentrism often entails the belief that one's own race or ethnic group is the most important and that some or all aspects of its culture are superior to those of other groups. Claude Lévi-Strauss defined racism as the belief that one's race is biologically superior—that superior genes, chromosomes, DNA put it at an advantage over all others[1]. These beliefs have lead some to use science to attempt to find the genetic basis for the superiority of their own race.

Today sociologists define race and ethnicity as social constructs with no biological basis. They site many cases of how castes and ethnic groups have been constructed from groups that are genetically indistinguishable. Since many of the conflicts today are internal they involve groups that are closely related. Examples involve the Hutu-Tutsi conflict, the Yugoslav wars[2] or the various conflicts in the middle east[3].

Race and Intelligence

Main article: Race and Intelligence

There is considerable controversy over whether there are any differences in intelligence between the various populations. Much of this controversy centers around racial and ethnic differences in intelligence test scores.

Another area of contention is the question of why certain societies such as those associated with western Eurasia, have made large technological strides in recent times while other societies are still living in the stone age in the 21st century. On one hand there are some who believe that these differences arose due to inherently genetic factors. On the other hand there are those who argue that the reason why certain societies progressed was more a result of opportunity and necessity rather than any inherent genetic advantages in cognitive ability.

Race and Behaviour

Carolus Linnaeus was a pioneer in defining the concept of race in humans. Each race had certain characteristics that he considered endemic to individuals belonging to it. Native Americans were reddish, stubborn and easily angered. Africans were black, relaxed and negligent. Asians were sallow, avaricious and easily distracted. Europeans were white, gentle and inventive. Linnaeus's races were clearly skewed in favour of Europeans. The legacy of these notions survives today in the stereotypes about racial behaviour.

Race and physical ability

The apparent dominance of certain ethnicities in certain sporting abilities has led some to question whether there is a genetic component predisposing certain races to different sports. Examples include people of west African descent in sprinting and Europeans in weightlifting. The dominance of blacks in some American sports has been the subject of a longtime controversy. The theory that blacks are naturally superior is generally dismissed as racist. Critics say that presumption also infers that athletes of African descent are intellectually and morally inferior and dismissing the hard-work of blacks who excel in sports[4][5] [6].

Nature versus nurture

The nature versus nurture debates concern the relative importance of an individual's innate qualities ("nature") versus personal experiences ("nurture") in determining or causing individual differences in physical and behavioral traits. On the nature side is the philosophy of genetic determinism. This is the belief that genes determine physical and behavioral phenotypes and that the environment has little or no role in influencing phenotypes . This term is often applied to the mapping of a single gene to a single phenotype such as a gene for intelligence or a gene for homosexuality or a gene for aggressive behavior.

On the other hand social determinism the hypothesis that social interactions and social constructs alone are responsible for influencing individual behavior. Environmental determinism is the view that the physical environment rather than genes or social conditions determine the culture of a society.

Nature versus nature controversies often arise when attempting to explain any racial disparity such as athletic success, test scores or health indicators.

Early history

Blood groups

geographic distribution of blood group A

Prior to the discovery of DNA as the hereditary material scientist used blood proteins to study human genetic variation. The first blood transfusions were recorded in the 15th century in Italy. Many people died from severe reactions and the the practice was banned. The practice started again in the 19th century to combat fatal hemorrhages occurring from childbirth. however many patients were still suffering the sometimes lethal consequences of reaction to the transfusion. in 1875 scientists noticed that this reaction was due to the blood cells clumping together and sometimes bursting open. In 1900 Karl Landsteiner discovered that the problem was different blood groups of the ABO system.

geographic distribution of blood group b

During the first world war demand for blood transfusions increased. One of the first papers written on blood groups was by Ludwik and Hanka Herschfeld who worked at a global blood testing laboratory for the Allied forces. As the allies drew forces from several nations the Herschfelds were able to collect and compile blood group profiles of several nations.

When the compared the results the found the frequencies of blood groups A and B differed greatly from region to region. For example among Europeans 15% were group B and 40% were group A. Africans and Russians had higher frequencies of group B with people from India having the highest proportion. The Herschfelds concluded that humans were made of two different "biochemical races" each with its own origin. These two pure races later became mixed resulting in the complex pattern of groups A and B. This was one of the first indications that visible human variation did not necessarily correlate with the invisible variation.

It was hoped that groups that had similar proportions of the blood groups would be more closely related but instead it was often found that groups separated by large distances such as Madagascar and Russia would have similar frequencies. This confounded scientists who were attempting to learn more about human evolutionary history. The next big break would come with the discovery of more blood groups and proteins[7].

Blood proteins and molecular evolution

Further information: [[:molecular evolution]]

In 1957 Emile Zuckerkandl began studying the amino acid sequences of various blood proteins. Hemoglobin was a useful protein to study because it was found in the blood of every living mammal. When studying the amino acid sequences of various mammals Zuckerkandl found that the protein sequences were quite similar but he also noticed an interesting pattern. He found that the more closely related animals were the more similar their amino acid sequences were. For example the human and gorilla sequences differed in two places while the human and the horse differed in 15 places. This suggested that the proteins could serve as a molecular clock indicating when the two different species last shared a common ancestor by counting the number of different amino acids. A phylogenetic tree could then be built that portrays the evolutionary relatedness of various speciesCite error: A <ref> tag is missing the closing </ref> (see the help page).. When scientist began studying global mitochondrial DNA sequences they identified 33 mitochondrial DNA clans, 13 were from Africa. Though Africa had only 12% of the worlds population it had 40% of the maternal clans. As a rule of thumb for any species the region of greatest diversity is usually the region of origin.

Studies using Mitochondrial DNA have found that all humans today are descended from one woman, named Mitochondrial Eve, who may have lived in Africa some 150,000 years ago. Since Mitochondrial Eve 7500 generations have passed, and since the first split between Africans and non Africans, 2500 generations have passed. This would explain why human genetic diversity is relatively low compared to species that have existed for much longer.

Human genome

Main article: human genome

Though Watson and Crick discovered the structure of DNA in 1953, its use in studying Human genetic variation was fairly limited because the technology to decode its sequences was too slow. Polymerase chain reaction was invented in 1983 by Kary Mullis. This technique allowed for rapid sequencing of segments of DNA. The human genome project would then proceed to sequence a working draft of the human genome in 2000.

The human genome was found to contain 3.1 billion DNA base pairs. Initially scientists had expected to find a significant number of genes, around 100,000 [8]. However scientists continued to revise down their estimates until finally arriving at a number between 20,000 and 25,000 genes. This low estimate surprised many scientists who viewed the number of genes as related to an organisms complexity. As a comparison much simpler organisms such as the roundworm have only 20,000 genes and certain plants species have more genes than humans.

Another surprise was that only about 3% of the genome was found to code for protein or had some regulatory purpose. The other 97% of the genome at present has no known function and has been labeled junk DNA.

The human genome is remarkably similar to that of the chimpanzee. Initially it was estimated that the human and chimpanzee genomes were 98.6 similar. When insertions and deletions in DNA sequences were later considered the figure was revised down to about 95%. Much of the difference is also junk DNA[9].

Non concordance

File:Nonconcordant traits.jpg

The most widely used human racial categories are based on various combinations of visible traits such as skin color, eye shape and hair texture. However many of these traits are non-concordant in that they are not necessarily expressed together. For example skin color and hair texture vary independently[10]. This caused problems to early anthropologists who were attempting to classify race based on visible traits. Some example of non-concordance include:

  • There are many people in Africa and all over the world affected by Albinism who have very light skin.
  • Skin color varies in all over the world in different populations. People from the Indian subcontinent are sometimes classified as caucasian but some have dark skin.
  • Epicanthal fold are typically associated with East Asian populations but are found in populations all over the world, including many Native Americans, Southern Africans, the Saami, and even amongst some isolated groups such as the Andamanese.
  • Lighter hair colors are associated with northern Europeans but blond hair is found amongst some of the dark skinned populations of the south pacific, particularly the Solomon islands and Vanuatu


Human genetic variation

The human genome project found that genetically humans are very similar. The most common polymorphisms (or genetic differences) in the human genome are single base-pair differences. Scientists call these differences SNPs, for single-nucleotide polymorphisms. About 99.9% of the human genome is identical in all humans. On average there is only 0.1% difference, which implies that any the genomes of any two random humans are expected to differ by about 3 million base pairs. Of this 0.1% difference, 85% is found within any given population, 7 % is found between populations within a race and only 8% is found on average between the various races. Thus there is more genetic diversity within a race than between various races. Compared with other species the amount of genetic diversity among humans is relatively small. For example two random chimpanzee are expected to differ by about 500 DNA base pairs, equivalent to double the diversity amongst humans. This indicates that chimpanzees have existed as a species much longer than humans[11].


Most of this genetic variation is found in the "junk DNA" . Scientists estimate that up to 97% of the human genome is junk DNA. This entails that the actual genes, that do function, vary much less. The reason for this is that mutations that occur in the Junk DNA have no effect and are referred to as selectively neutral. Whereas mutations that occur in the actual genes are subject to the rigors of natural selection. If the mutation has strong adverse effect it is quickly eliminated from the population as the affected organism does not survive or does not reproduce. For example it has been estimated that 20% of all conceptions end in miscarriages in the few days following fertilization. This is because of mutations in the genes that are harmful to the fetus. The net effect is that these mutations in the actual genes are not passed on to subsequent generations. On the other hand mutations in the junk DNA are free to accumulate with time.


Since mutations in junk DNA occur much faster than in the genes, they accumulate much faster in local populations. This is useful to population geneticists who can use these SNPs to distinguish various populations. Ancestry-informative marker are stretches of DNA which have several polymorphisms that exhibit substantially different frequencies between the different populations. Using these AIMs scientists can determine a persons continent of origin based solely on their DNA. AIMs can also be used to determine someones admixture proportions[12].

Genetic variation is found also in genes but at present this variation is poorly understood. Much of the variation is found the regions of the genome affected by the environment. A notable example is is genes affecting physical appearance and in particular skin color. Many of the genes regulating physical appearance have yet to be discovered. Genes related to the immunity system also show great variability with geographic location as a result of positive selection from the effects of regional diseases.

Models of genetic variation

Percentage genetic distances among major continents based on 120 classical polymorphisms
Africa Oceania East Asia Europe
Oceania 24.7
East Asia 20.6 10
Europe 16.6 13.5 9.7
America 22.6 14.6 8.9 9.5

There are several methods used to model human genetic variation. Genetic distance is a measure used to quantify the genetic differences between two populations. It is based on the principle that two populations that share similar frequencies of a trait are more closely related than populations that have more divergent frequencies of a trait. In its simplest form it is the difference in frequencies of a particular trait between two populations. For example the frequency of RH negative individuals is 50.4% among Basques is 41.2% in France and 41.1 in England. Thus the genetic difference between the Basques and French is 9.2% and the genetic difference between the French and the English is 0.1%for the RH negative trait[13].

When only one trait is consider it often results in two very distant populations having little or no genetic difference. For example the frequency of blood group B allele in Russia is the same as in Madagascar indicating zero value for genetic distance. To adjust for these instances it is thus necessary to average values over several genetic systems. As DNA of all humans is 99.9 percent the same the vast majority of traits show little genetic distance between the continents. However for a the few traits that are highly polymorphic genetic distances can be calculated and used to create phylogenetic relationships.

File:Oceania africa europe.jpg
An Indigenous Australian , Melanesian, African European. Though Oceanians resemble Africans they are the most genetically distant. Africans are more closely related to Europeans than any other group despite having different skin colors.

Historically people have chosen spouses from nearby villages. Hence genetic distance is largely related to geographic distance between populations[14]. Genetic distance may also occur due to physical boundaries that restrict gene flow such as Islands cut off by rising seas.

A study by Cavalli-Sforza using 120 blood polymorphisms provides information on genetic distances of the various continents[15].

The largest genetic distance between any two continents is between Africa and Oceania at 24.7. Based on physical appearance this may be counterintuitive, since Australians and New Guineans resemble Africans with dark skin and sometimes frizzy hair. This resemblance is probably an example convergent evolution. This large figure for genetic distance reflects the relatively long Isolation of Australia and New Guinea since the end of the Last glacial maximum when the continent was further isolated from mainland Asia due to rising sea levels.

The next largest genetic distance is between Africa and the Americas at 22.6%. This is expected since the longest geographic distance by land is between Africa and South America. The shortest genetic distance at 8.9% is between Asia and the Americas indicating a more recent separation.

Africa is the most divergent continent with all other groups being more related to each other than to Africa. This is expected in accordance with the Recent single-origin hypothesis. The population most closely related to Africans are Europeans. This may be counterintuitive based on recent racial tensions between blacks and whites. However this short distance indicates significant interaction and gene exchange between Africa and Europe in the not so distant past.

Factors influencing genetic diversity

selection

Positive selection plays an important role in shaping genetic variation. Most notably is its role in influencing physical appearance. Dark skin appears to be under strong selection because the protein that causes it varies very little in African populations but is free to vary in populations found outside Africa. This in indication that dark skin was selected to protect against the harmful effects of UV radiation that cause birth defects due to destruction of vitamin b folate. UV radiation also causes sunburn and skin cancer. When people left the sun intensive regions of Africa the protein was free to vary as a result lighter skin color reemerged in populations around the world.[16] Immunoglobulins or antibodies are also under strong selection in response to local diseases. For example people who are duffy negative tend to have higher resistance to Malaria. Most Africans are duffy negative and most Europeans are duffy positive[17].

Native Americans are almost exclusively Blood group O at about 98%. Some scientists believe this widespread distribution indicates strong selection, possibly resistance to syphilis. During the European invasion of the Americas, millions of Native Americans were decimated because of diseases they were not immune to such as smallpox and influenza. Europeans had become resistance to these disease after suffering several series of deadly plagues starting with the Black death. In turn the Europeans contracted syphilis to which they had no immunity.

Genetic drift

Genetic drift is considered the nemesis of Natural selection. It is the random change in gene frequencies between generations. By chance, a few individuals may leave behind more descendants and thus genes than other individuals. The genes of the next generation will be the genes of the “lucky” individuals, not necessarily the healthier or “better” individuals. It is by this mechanism that all humans alive today are all descended from mitochondrial Eve through their maternal line as opposed to any other female contemporary of Eve.

Founder effect

Simple illustration of founder effect. The original population is on the left with three possible founder populations on the right.

The founder effect is the establishment of a new population by a few original founders which carry only a small fraction of the total genetic variation of the parental population. As a result, the new population may be distinctively different, both genetically and phenotypically, from the parent population from which it is derived. Some scientists speculate that the ubiquity of Blood group O amongst native Americans is an example of a strong founder effect. They argue that a small band of Asian people who crossed the Bering strait into Alaska may have been predominantly Blood group O.

Founder effects are notable following the colonization of Islands. The crania of Indigenous Australians is one of the most differentiated from other populations and is the most easily identified due to more prominent brow ridges. Since the crania shows little variability amongst Australians some scientists believe it arose from a founding effect[18].

Gene flow between continents

Gene flow is the exchange of genes from one population to another. Gene flow has the effect of reducing the genetic distance between two populations.Since genes are exchanged between neighboring populations many traits are distributed along clines. The boundaries of the major continents may in some cases restrict gene flow, allowing for genetic differentiation.

However many of the political divisions of today are not naturally occurring and in the past have not restricted gene flow. Europe and Asia are in fact the single continent of Eurasia. This would explain the relatively small genetic distance of 9.7% as calculated by Cavalli-Sforza.

Controversially North Africa is sometimes included as Part of Eurasia. Northeast Africa is adjacent to Saudi Arabia and thus Africans have a long history of interaction with the middle east. Populations in the horn of Africa have significant Arab admixture. African mitochondrial DNA haplotypes are also frequent in the Middle east. Across the Sahara from Sudan to Senegal interactions between blacks and Arabs have resulted in significant gene exchange between the populations. 20% of North Africans have sub-saharan African mitochondrial DNA haplogroups. During the 8th century the Moors from North Africa conquered the Iberian peninsula, in the process they would have brought African admixture to Europe. Studies have shown about 4% of the population in spain and portugal have sub-saharan mtDNA haplogroups. This is clinally distributed across europe from southwest to North east with Northern Europe showing no presence.

Africa is the most genetically divergent continent. However the most closely related population to Africa based on genetic distance is Europe at 16.6%. This may be counterintuitive based on different skin colors. Independent evolution on the different continents would result in equal genetic distances between africa and the other continents. However this low figure of 16.6( relative to australia 24.7, and America 22.6%) indicates that there has been substantial interaction and exchange of genes between Africa and Europe. Cavalli-Sforza estimates that Europeans are mixed race population, one third African and two thirds Asian[13][19].

Joseph Greenberg classified American languages into three large families. He proposed that these families represent three separate migrations that filled the Americas in the order they arrived. These seperate migrations across the Bering strait would have continued to bring new genes from Asia thus reducing the genetic distance between Asia and America.

Australasia is largely considered to be the most isolated continent. It was occupied at least 40,000 years ago when sea levels were much lower and the shortest distance between Indonesia and Australia was a 90km sea voyage. 20,000 years ago at the end of the last Glacial Maximum, sea levels rose due to melting ice sheets flooding much of Australia's coastline and increasing its geographic isolation from Asia. Tasmania was cut off from Australia 10,000 years ago making it the most isolated region. These obstacles significantly restricted gene flow to indigenous Australasians. Second to Africa Australasia is most genetically divergent continent by genetic distance. However evidence suggests that even with Australasia gene flow has been taking place. Fossils of the Dingo in Australia have been dated to only 3500 years ago indicating that it was recently introduced. The dingo is native to India. Some Y chromosomal studies indicate a recent influx of y chromosomes from the Indian subcontinent[20]. More recently fisherman from Makassar in Indonesia regularly made contact with Indigenous Australians from possibly as early as 1000 CE.

Sexual selection

Sexual selection is a controversial theory that competition for mates between individuals of the same sex drives the evolution of certain traits. Neoteny is a term that describes the retention of infant like characteristics through adulthood. Some scientists believe sexual selection for certain neotenous traits has been a driving force in differentiating various populations. These traits include less hairy skin, more delicate skin, thinness of skull bones and a gracile skeleton. The so named "Mongoloid" skeleton is the most gracile skeleton. Gracile is defined as low bone thinness relative to length and is contrasted with a robust skeleton. Worldwide the skeletons of all populations have undergone considerable gracilization in the last 10000 years[21].

Recent Admixture

Miscegenation between two populations reduces the genetic distance between the populations. During the Age of Discovery which began in the early 15th century, Europeans explorer sailed all across the globe reaching all the major continents. In the process the came into contact with many populations that had been isolated for thousands of years. It is generally accepted that the Tasmanian aboriginals were the most isolated group on the planet. They were driven to extinction by European explorers, however a number of their descendants survive today as a result of admixture with Europeans. This is an example of how modern migrations have began to reduce the genetic divergence of the human race.

The demographic composition of the old world has not changed significantly since the age of discovery. However the new world demographics were radically changed within a short time following the voyage of Columbus. The colonization of Americas brought Native Americans into contact with the distant populations of Europe, Africa and Asia. As a result many countries in the Americas have significant and complex multiracial populations. Furthermore many who identify themselves by only one race still have multiracial ancestry.

Admixture in the United States

Today the vast majority of African Americans possess varying degrees of European and Native American admixture. Some estimates put average European Admixture at 25% with figures as high as 50% in the Northeast and less than 10% in the south. On the other hand about a third of White Americans, approximately 74 million, have African admixture ranging from 2% to 20%. Studies based on skin reflectance have shown the the color line in the US applied selective pressure on genes that code for skin color but did not apply any selective pressure on other invisible African genes. Since there are an estimated 6 alleles involved for skin color it is possible for a someone to have 15-20 % African admixture and not possess any of the alleles that code for dark skin. This is the basis of the passing phenomena. Thus African admixture amongst white Americans can increase without any significant change in skin tone. Conversely amongst African Americans amount of African Admixture is directly correlated with darker skin since no selectionary pressure is applied. As a result African Americans may have a much wider range 0-100% of admixture, whereas European Americans have a lower range 2-20%. A small overlap exists so that it is possible that someone who self identifies as white may have more African admixture than a person who self identifies as black people [22][23]

Admixture in Latin America

Evidence for sex biased mating in the White population of some Latin American countries
Country Amerindian African
mtDNA Y-chromosome mtDNA y-chromosome
Brazil 33% 0% 29% 2%
Argentina 45% 9% ns ns
Chile 84% 22% ns ns
Colombia 90% 1% 8% 5%
Costa Rica 83% 6% ns 7%

Unlike in the United States there were no anti-miscegenation policies in Latin America. Though still a racially stratified society there were no significant barriers to gene flow between the three populations. As a result admixture profiles are a reflection of the colonial populations of Africans, Europeans and Amerindians. The pattern is also sex biased in that the African and Amerindian maternal lines are found in significantly higher proportions than African or Amerindian Y chromosomal lines. This is an indication that the primary mating pattern was that of European males with Amerindian or African females. For example a study of white Brazilians found 33% had Amerindian mtDNA and 29% had African mtDNA. However only 2% had African y chromosomes and 0% Amerindian. According to the study more than half the white populations of the Latin American countries studied have either native American or African admixture. In countries such as Chile and Colombia almost the entire white population has non-white admixture.[24][25][26]. Following the dispersal of Humans from Africa 50,000 years ago South America was the last continent to be occupied by humans. Thus the largest geographic distance between continents is between Africa and South America. Since genetic distance increases with geographic distance the two most genetically divergent groups are Africans and Native South American Indians based on distance. The arrival of Africans in Brazil and subsequent mixing with native south Americans entails the creation of intermediate populations, such as the Zambo or Garifuna between the two divergent groups.


Defining race

The 0.1% genetic difference that differentiates any two random humans is still the subject of much debate. The discovery that only 8% of this difference separates the major races led some scientists to proclaim that race is biologically meaningless. They argue that since genetic distance increases in a continuous manner any threshold or definitions would be arbitrary. Any two neighboring villages or towns will show some genetic differentiation from each other and thus could be defined as a race. Thus any attempt to classify races would be imposing an artificial discontinuity on what is otherwise a naturally occurring continuous phenomenon.

However other scientists disagree claiming that the assertion that race is biologically meaningless is politically motivated and that genetic differences are significant. Neil Risch states that numerous studies over past decades have documented biological differences among the races with regard to susceptibility and natural history of a chronic disease.

Clusters controversy

A computer program called STRUCTURE is used by some scientists to determine clusters of Human populations. It is a statistical program that works by placing individuals into a number of predefined clusters based on their overall genetic similarity. These predefined clusters are based on genetic markers whose frequencies are already known to vary significantly amongst the races. The notion of a genetic cluster is that people within the cluster are significantly more related to each other than to those in other clusters.

A study by Noah A. Rosenberg and Jonathan K. Pritchard, geneticists from the laboratory of Marcus W. Feldman of Stanford University, assayed 377 polymorphisms in more than 1,000 people from 52 ethnic groups in Africa, Asia, Europe and the Americas. They concluded that without using prior information about the origins of individuals, they were able to identify six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. The clusters corresponded to Africa, Europe and the part of Asia south and west of the Himalayas, East Asia, Oceania, and the Americas.


Another study by Risch of 3,899 SNPs in 313 genes based on US populations (Caucasians, African-Americans, Asians and Hispanics) once again showed distinct and non-overlapping clustering of the Caucasian, African-American and Asian samples. According to the study the results confirmed the integrity of the self-described ancestry of these individuals since the populations in their research "clustered into the five continental groups.

Criticism of the clusters study

Though the authors of the study do not equate the clusters with race there are some who view the studies on clusters as evidence of the existence of biological races. Hence these studies have attracted considerable controversy. Critics argue that using genetic information to determine an individuals continent of origin is not a new concept. Using The ABO, RH an MNS blood groups scientist in the 1950's could already determine continent of origin based on known frequencies of these trait.

Critics argue that any attempt to divide humanity will always produce artificial results. They point to the fact that in the study when six clusters were used an additional cluster(race) appeared which comprised solely of the Kalash of Pakistan. Several groups in the study also appeared in two races such as Ethiopians, Hazara of Pakistan Uygur from Pakistan and western China. Joseph Graves argues that in the study the people sampled were from regions separated by large distances such as South African Bantu and Russians. He argues that if more people came from the regions that bridge the continents results may have been different. Examples such as Armenians would cluster both with Asia and Europe. Somalian or Yemenites may cluster both with Africa and Europe.

Others say bulk of human variation is continuously distributed and, as a result, any categorization schema attempting to meaningfully partition that variation will necessarily create artificial truncations. It is for this reason, they argue, that attempts to allocate individuals into ancestry groupings based on genetic information have yielded varying results that are highly dependent on methodological design[27].

Nicholas Wade who often sites the work of clusters in articles for the New York Times says that even if individuals can be assigned to continent of origin based their genotype (genes), this is not an indication of phenotype. This is because the SNPs used in the clustering study are selectively neutral ie stretches of Junk DNA that have no known function. Since they do not code for any protein or have regulatory function, mutations can occur without interfering in normal cell function. Over time these mutations can accumulate much quicker in local populations and thus they can be used to identify continent of origin. Therefore these SNPS that can be used to differentiate continental populations are not known to influence intelligence, behavior, susceptibility to disease or ability in sports. Wade argues that it is possible that even though the sites used are nonworking sections of DNA, mutations in them may be serve as a proxy for mutations in genes that influence intelligence and behaviour. However he admits that at the moment there is no known relationship between mutations in junk DNA and mutations in genes.

Complexities of the human genome

Though a blueprint for the entire human genome was made available by the Human genome project, much of how the human genome works is still a mystery. Scientists are still grappling with conundrum of how as few as 20,000 genes are responsible for all the complexities of the human body[28]. Thus many scientists argue that until much more is learned about the human genome it will be premature to any assumptions about racial differences.

Heritability

Heritability is the degree to which a characteristic is determined by genetics. Mendelian traits are those that are controlled by a single gene. Examples include dimples, sickle cell disease and cystic fibrosis. These traits follow the basic rules of Mendelian inheritance. The heritability of Mendelian traits is very high. For these traits it is possible for scientists to identify and locate the exact gene responsible for trait and make accurate predictions about outcomes.

However many traits are polygenic in that they depend on many genes. In a population these traits will show a continuous distribution on a bell curve. Examples include height. If it were controlled by only one allele people would either be tall or short, instead we see a wide range of heights. Skin color is also polygenic.

Polygenic traits can be multifactorial meaning that they depend on a complex interplay with other genes and the environment. Examples include Cancer, the outcome of which is determined by the interplay between cancer causing genes, cancer suppressing genes and environmental factors such as pollution or smoking. Complex traits like behavior and intelligence are very likely multifactorial. The heritability of multifactorial traits is generally much lower than those of single gene traits. Some scientists prefer not to see these traits as genetic but instead refer to inheriting a predisposition to developing the trait[29].

The genome and intelligence

It has been argued that in order to make a hypothesis for race and intelligence work the genes for intelligence need to be identified and the frequencies in the various races computed. However recent studies attempting to find loci in the genome relating to intelligence have had little success. Using several hundreds of people a study of 1842 DNA markers from a high IQ group with an IQ of 160 and a control group with an IQ of 102. The study used a five step inspection process to eliminate false positives. By the fifth step the study could not find a single gene that was related to intelligence. [30]. The failure to find a specific gene associated with intelligence indicates that cognitive abilities are very complex and are likely to involve several genes. Some estimate that as much as 40% of the genome may contribute to intelligence. The more genes that contribute to a trait the less likely that a trait can be race specific since most genetic variation is found within a race. The more genes that contribute to a trait the more the trait will be continuous instead of discrete, with smaller differences.

In the US, Critics of these studies say that as long as social and environmental disparities between the races exist it will be impossible to scientifically test whether there are any genetic differences in IQ between the various populations. They propose that if the historical effects of poverty and social bigotry were eliminated and differences in IQ between the races still persisted then there might be some utility in such research.

Genetic heterogeneity

Genetic heterogeneity is used to describe the presence of different genes that produce same trait. For example the gene that causes light skin in Europeans is different than the gene that causes light skin in East Asians. Europeans have a different version of the SLC24A5 than East Asians indicating that they evolved light skin independently.

In a recent asthma study found that genes that defined susceptibility to asthma in blacks were different than the genes defined susceptibility in whites which were again different for the genes that defined defined susceptibility to asthma in Hispanics.

This concept indicates that in some cases having a different genotype does not necessarily mean having a different phenotype.

Epigenetic inheritance

Epigenetic inheritance describes a phenomenon where traits are passed on to the next generation based on environmental effects or experience. These traits are inherited without being written into the DNA sequence. In some cases traits are passed on to the next generation by the switching off or on of various genes that are already present. The implication of this is that having the same genotype at a locus does not necessarily mean having the same phenotype.

Modern civilization and genetics

The global rise of modern civilization and technology can largely be traced to recent advances that took place in western europe. Author Jared Diamond tackles the question of why Europeans colonized much of the world instead of the other way around in his book Guns germs and steel. According to Diamond, in the centuries after 1500 when European explorers came into contact with peoples around the world they became aware of wide differences in the use of technology and political organization. They assumed that those difference arose from differences in innate biological ability. Darwinian evolution viewed the "primitive societies" to be vestiges of human descent from apelike ancestors. Finally in the 20th century with the rise of genetics Europeans came to be viewed as genetically superior than Africans and Australian aboriginals.

He argues that in western societies racism is publicly denounced but privately or subconsciously many still hold the view that the rise of western civilization was at least in part due to genetic advantages. Diamond controversially holds the view that the rise of western civilization is linked to geography and environment. He argues that the presence of wild ancestors to of wheat and barley, two of the most nutritious cereals, in Eurasia and the presence of 12 out of 14 of the worlds domesticable large mammals gave Eurasia a head start over the rest of the world. He argues that Eurasia is the largest continent and its East-west extent meant similar climatic conditions. This facilitated the easy exchange of crops, Knowledge and technology.

However some scholars disagree with this philosophy. Recently scientists identified two genes, microcephalin and ASPM that are associated with brain size. These genes are found at high frequencies in European and asian populations indicating strong selection but they are not found amongst Africans. Some report that microcephalin arose some 37,000 years ago coinciding with upper paleolithic transitions in Europe. They thus believe these two genes conferred some cognitive abilities upon europeans and asians[31]. These studies have been criticized saying it was far from clear that the new alleles conferred any cognitive advantage or had spread for that reason. A recent study found that the adaptive value of microcephalin and aspm is not explained by increased intelligence[32].

See also

Footnotes

  1. ^ [1]
  2. ^ [Genes, Culture, and Human Evolution: A Synthesis page 156 ISBN 1405150890 ]
  3. ^ [2]
  4. ^ [3]
  5. ^ [4]
  6. ^ Race, the power of an illusion
  7. ^ The Seven Daughters of Eve By Sykes, Bryan Chapter 3 ISBN 0393020185
  8. ^ [5]
  9. ^ [6]
  10. ^ [7]
  11. ^ understanding human genetic variation
  12. ^ Lewontin, R.C. "Confusions About Human Races".
  13. ^ a b [Genes, Peoples, and Languages By L. L. (Luigi Luca) Cavalli-Sforza ISBN 0520228731 ]
  14. ^ Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa
  15. ^ [8]
  16. ^ why humans and their fur parted
  17. ^ [9]
  18. ^ page 326
  19. ^ [10]
  20. ^ [11]
  21. ^ growing young Ashely Montagu
  22. ^ ISBN 0939479230 legal History of the Color Line: The Notion of Invisible Blackness, By Frank W. Sweet
  23. ^ afro European admixture
  24. ^ [12]
  25. ^ ancestry of Brazilian mtDNA lineages
  26. ^ The Evolution and Genetics of Latin American Populations By Maria Cátira Bortolini, Francisco M. Salzano ISBN 0521652758
  27. ^ [http://paa2006.princeton.edu/download.aspx?submissionId=61713 Back with a Vengeance: the Reemergence of a Biological Conceptualization of Race in Research on Race/Ethnic Disparities in Health Reanne Frank]
  28. ^ [13]
  29. ^ Understanding human genetic variation
  30. ^ A Genome-Wide Scan of 1842 DNA Markers for Allelic Associations With General Cognitive Ability: A Five-Stage Design Using DNA Pooling and Extreme Selected Groups
  31. ^ Brain May Still Be Evolving, Studies Hint
  32. ^ The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence

References

Leopards (Panthera pardus): Molecular Genetic Variation. Conservation Biology 10:1115-1132.

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