Haplogroup R1b (Y-DNA)
|Possible time of origin||less than 18,500 years BP|
|Possible place of origin||West Asia,|
|Descendants||R1b1a (R-P297), R1b1b (R-M335), R1b1c (R-V88)|
|Defining mutations||1. M343 defines R1b in the broadest sense
2. P25 defines R1b1, making up most of R1b, and is often used to test for R1b
3. In some cases, major downstream mutations such as M269 are used to identify R1b, especially in regional or out-of-date studies
|Highest frequencies||Western Europe, Northern Cameroon, Bashkirs|
Haplogroup R1b (Y-DNA) is the dominant paternal lineage of Western Europe. In human genetics, Haplogroup R1b is the most frequently occurring Y-chromosome haplogroup in Western Europe and in parts of sub-Saharan Central Africa (for example around Chad and Cameroon). R1b is also present at lower frequencies throughout Eastern Europe, Western Asia, Central Asia, and parts of North Africa, South Asia, and Siberia. Due to European emigration it also reaches high frequencies in the Americas and Australia. While Western Europe is dominated by the R1b1a2 (R-M269) branch of R1b, the Chadic-speaking area in Africa is dominated by the branch known as R1b1c (R-V88). These represent two very successful "twigs" on a much bigger "family tree."
- 1 Nomenclature
- 2 Origin and dispersal
- 3 Root of R1b tree
- 4 R1b (R-M343)
- 5 In popular culture
- 6 See also
- 7 References
"R1b", "R1b1", and so on are "phylogenetic" or family tree based names which explain the branching of the family tree of R1b. For example R1b1a and R1b1b would be branches of R1b1, descending from a common ancestor. This means that these names can change with new discoveries.
The alternative way of naming haplogroups is to refer to the SNP mutations used to define and identify them, for example "R-M343" which is equivalent to "R1b." Haplogroup R1b is in other words now identified by the presence of the single-nucleotide polymorphism (SNP) mutation M343, which was discovered in 2004. From 2002 to 2005, R1b was defined by the presence of the SNP named P25.
Standardized naming as described above, both using phylogenetic or mutational systems, was first proposed in 2002 by the Y Chromosome Consortium. Prior to 2002, today's Haplogroup R1b had a number of names in differing nomenclature systems, such as Hg1 and Eu18.
After 2002, a major update of the YCC phylogenetic nomenclature was made in 2008 by Karafet et al. which took account of newer discoveries of branches which could be clearly defined by SNP mutations, including some which changed the understanding of R1b's family tree. Since 2008 it has become increasing necessary to refer to the frequently updated listing made on the ISOGG website.
Also prior to 2002, major Y DNA signatures based on markers other than SNPs were recognized. In Western Europe the STR haplotype known as the Atlantic Modal Haplotype was found to be most common by Wilson et al. Even earlier research using RFLP genotyping identified two distinct haplotypes within R-M269. In southeast Europe and southwest Asia (e.g. the Balkans, Georgia and Turkey) "haplotype 35" or "ht35" was found to be a common form of R-M269, whereas in western Europe "haplotype 15" or "ht15" dominated in frequency.
Origin and dispersal
R1b is a sub-clade within the much larger Eurasian MNOPS "macro-haplogroup", which is one of the predominant groupings of all the rest of human male lines outside of Africa, and this whole group, along indeed with all of macro-haplogroup F, is believed to have originated in Asia.
Early research focused upon Europe. In 2000 Ornella Semino and colleagues argued that R1b had been in Europe before the end of the Ice Age, and had spread north from an Iberian refuge after the Last Glacial Maximum. Age estimates of R1b in Europe have steadily decreased in more recent studies, at least concerning the majority of R1b, with more recent studies suggesting a Neolithic age or younger. Only Morelli et al. have recently attempted to defend a Palaeolithic origin for R1b1b2. Irrespective of STR coalescence calculations, Chikhi et al. pointed out that the timing of molecular divergences does not coincide with population splits; the TMRCA of haplogroup R1b (whether in the Palaeolithic or Neolithic) dates to its point of origin somewhere in Eurasia, and not its arrival in western Europe.
Barbara Arredi and colleagues were the first to point out that the distribution of R1b STR variance in Europe forms a cline from east to west, which is more consistent with an entry into Europe from Western Asia with the spread of farming. A 2009 paper by Chiaroni et al. added to this perspective by using R1b as an example of a wave haplogroup distribution, in this case from east to west. The proposal of a southeastern origin of R1b were supported by three detailed studies based on large datasets published in 2010. These detected that the earliest subclades of R1b are found in western Asia and the most recent in western Europe. While age estimates in these articles are all more recent than the Last Glacial Maximum, all mention the Neolithic, when farming was introduced to Europe from the Middle East as a possible candidate period. Myres et al. (August 2010), and Cruciani et al. (August 2010) both remained undecided on the exact dating of the migration or migrations responsible for this distribution, not ruling out migrations as early as the Mesolithic or as late as Hallstatt but more probably Late Neolithic. They noted that direct evidence from ancient DNA may be needed to resolve these gene flows. Lee et al. (May 2012) analysed the ancient DNA of human remains from the Late Neolithic Bell Beaker site of Kromsdorf, Germany identifying two males as belonging to the Y haplogroup R1b. Analysis of ancient Y DNA from the remains of populations derived from early Neolithic settlements such as the Mediterranean Cardium and Central and North European LBK settlements have found an absence of males belonging to haplogroup R1b.
European R1b is now known to be dominated by R-M269, and the origins of this branch are discussed further in more detail below.
Root of R1b tree
For clarity, the identifiers below are those from both the 2010 and 2011 revisions of the ISOGG tree.
|2010 ISOGG tree||2011 ISOGG tree|
R1b* (that is R1b with no subsequent distinguishing SNP mutations) is extremely rare. The only population yet recorded with a definite significant proportion of R1b* are the Kurds of southeastern Kazakhstan with 13%. However, more recently, a large study of Y-chromosome variation in Iran, revealed R1b* as high as 4.3% among Persian sub-populations. In a study of Jordan it was found that no less than 20 out of all 146 men tested (13.7%), including most notably 20 out of 45 men tested from the Dead Sea area, were positive for M173 (R1) but negative for P25 and M269, mentioned above, as well as the R1a markers SRY10831.2 and M17, a study indicates that they are all R1b2-v88 . Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fulani who were M173+ and P25-. Wood et al. report 2 Egyptian cases of R1-M173 which were negative for SRY10831 (R1a1) and P25 (R1b1), out of a sample of 1,122 males from various African countries, including 92 from Egypt. Such cases could possibly be either R1b* (R-M343*) or R1a* (R-M420*) (demonstrating the importance of checking exact mutations tested when comparing findings in this field).
It is however also possible that some of the rare examples represent a reversion of marker P25 from a positive back to a negative ancestral state.
Frequency table of R1b1 (R-P25) subclades
An up-to-date compilation of data taking the latest information into account can be found in Cruciani et al. (2010) which can be summarised as follows. As will be discussed below however, in some parts of western and northwestern Europe, R-M269 frequencies can reach even higher levels.
|Africa||Central Sahel Region||461||23.0%||0.0%||23.0%||0.0%||0.0%|
|Europe||North western Europeans||43||55.8%||0.0%||0.0%||55.8%||0.0%|
|Europe||North Eastern Europeans||74||1.4%||0.0%||0.0%||1.4%||0.0%|
|Europe||South eastern Europeans||510||13.1%||0.0%||0.2%||12.9%||0.0%|
|Asia||South eastern Asians||10||0.0%||0.0%||0.0%||0.0%||0.0%|
|Asia||North eastern Asians||30||0.0%||0.0%||0.0%||0.0%||0.0%|
R1b1*, like R1b* is rare. As mentioned above, examples are described in older articles, for example two in a sample from Turkey, but most cases, especially in Africa, are now thought to be mostly in the more recently discovered sub-clade R-V88 (see below). Most or all examples of R1b therefore fall into subclades R1b1a (R-V88) or R1b1b (R-P297). Cruciani et al. in the large 2010 study found 3 cases amongst 1173 Italians, 1 out of 328 West Asians and 1 out of 156 East Asians. Varzari found 3 cases in the Ukraine, in a study of 322 people from the Dniester-Carpathian region, who were P25 positive, but M269 negative. Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1a (R-V88).
R1b1a is defined by the presence of SNP marker P297. In 2008 this polymorphism was recognised to combine M73 and M269 into one R1b1a cluster. The majority of Eurasian R1b is within this clade, representing a very large modern population. Although P297 itself has not yet been much tested for, the same population has been relatively well studied in terms of other markers. Therefore the branching within this clade can be explained in relatively high detail below.
R1b1a1 (2011 name) is defined by the presence of SNP marker M73. It has been found at generally low frequencies throughout central Eurasia, but has been found with relatively high frequency among particular populations there including Hazaras in Pakistan (8/25 = 32%); and Bashkirs in Bashkortostan (62/471 = 13.2%), 44 of these being found among the 80 tested Bashkirs of the Abzelilovsky District in the Republic of Bashkortostan (55.0%). Four R-M73 men were also found in a 523-person study of Turkey, and one person in a 168-person study of Crete.
In 2010, Myres et al. report that out of 193 R-M73 men found amongst 10,355 widespread men, "all except two Russians occurred outside Europe, either in the Caucasus, Turkey, the Circum-Uralic and North Pakistan regions."
R1b1a2 (2011 name) is defined by the presence of SNP marker M269. R1b1a2* or M269(xL23) is found at highest frequency in the central Balkans notably Kosovo with 7.9%, Macedonia 5.1% and Serbia 4.4%. Kosovo is notable in also having a high percentage of descendant L23* or L23(xM412) at 11.4% unlike most other areas with significant percentages of M269* and L23* except for Poland with 2.4% and 9.5% and the Bashkirs of southeast Bashkortostan with 2.4% and 32.2% respectively. Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%. Five individuals out of 110 tested in the Ararat Valley, Armenia belonged to R1b1a2* and 36 to L23*, with none belonging to subclades of L23.
European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia, but with relatively high frequency among Bashkirs of the Perm Region (84.0%). This marker is also present in China and India at frequencies of less than one percent. The table below lists in more detail the frequencies of M269 in various regions in Asia, Europe, and Africa.
The frequency is about 71% in Scotland, 70% in Spain and 60% in France. In south-eastern England the frequency of this clade is about 70%; in parts of the rest of north and western England, Spain, Portugal, Wales and Ireland, it is as high as 90%; and in parts of north-western Ireland it reaches 98%. It is also found in North Africa, where its frequency surpasses 10% in some parts of Algeria.
From 2003 to 2005 what is now R1b1a2 was designated R1b3. From 2005 to 2008 it was R1b1c. From 2008 to 2011 it was R1b1b2.
As discussed above, in articles published around 2000 it was proposed that this clade had been in Europe before the last Ice Age, but by 2010 more recent periods such as the European Neolithic have become the focus of proposals. A range of newer estimates for R1b1b2, or at least its dominant parts in Europe, are from 4,000 to a maximum of about 10,000 years ago, and looking in more detail is seen as suggesting a migration from Western Asia via southeastern Europe. Western European R1b is dominated by R-P310.
It was also in this period between 2000 and 2010 that it became clear that especially Western European R1b is dominated by specific sub-clades of R-M269 (with some small amounts of other types found in areas such as Sardinia). Within Europe, R-M269 is dominated by R-M412, also known as R-L51, which according to Myres et al. (2010) is "virtually absent in the Near East, the Caucasus and West Asia." This Western European population is further divided between R-P312/S116 and R-U106/S21, which appear to spread from the western and eastern Rhine river basin respectively. Myres et al. note further that concerning its closest relatives, in R-L23*, that it is "instructive" that these are often more than 10% of the population in the Caucasus, Turkey, and some southeast European and circum-Uralic populations. In Western Europe it is also present but in generally much lower levels apart from "an instance of 27% in Switzerland's Upper Rhone Valley." In addition, the sub-clade distribution map, Figure 1h titled "L11(xU106,S116)", in Myres et al. shows that R-P310/L11* (or as yet undefined subclades of R-P310/L11) occurs only in frequencies greater than 10% in Central England with surrounding areas of England and Wales having lower frequencies. This R-P310/L11* is almost non-existent in the rest of Eurasia and North Africa with the exception of coastal lands fringing the western and southern Baltic (reaching 10% in Eastern Denmark and 6% in northern Poland) and in Eastern Switzerland and surrounds.
In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding (Bavaria, Germany) dated to around 670 AD yielded the following results: 4 were found to be haplogroup R1b with the closest matches in modern populations of Germany, Ireland and the USA while 2 were in Haplogroup G2a.
Population studies which test for M269 have become more common in recent years, while in earlier studies men in this haplogroup are only visible in the data by extrapolation of what is likely. The following gives a summary of most of the studies which specifically tested for M269, showing its distribution in Europe, North Africa, the Middle East and Central Asia as far as China and Nepal.
|Wales||National||65||92.3%||Balaresque et al. (2009)|
|Spain||Basques||116||87.1%||Balaresque et al. (2009)|
|Ireland||National||796||85.4%||Moore et al. (2006)|
|Spain||Catalonia||80||81.3%||Balaresque et al. (2009)|
|France||Ille-et-Vilaine||82||80.5%||Balaresque et al. (2009)|
|France||Haute-Garonne||57||78.9%||Balaresque et al. (2009)|
|England||Cornwall||64||78.1%||Balaresque et al. (2009)|
|France||Loire-Atlantique||48||77.1%||Balaresque et al. (2009)|
|France||Finistère||75||76.0%||Balaresque et al. (2009)|
|France||Basques||61||75.4%||Balaresque et al. (2009)|
|Spain||East Andalucia||95||72.0%||Balaresque et al. (2009)|
|Spain||Castilla La Mancha||63||72.0%||Balaresque et al. (2009)|
|France||Vendée||50||68.0%||Balaresque et al. (2009)|
|France||Baie de Somme||43||62.8%||Balaresque et al. (2009)|
|England||Leicestershire||43||62.0%||Balaresque et al. (2009)|
|Italy||North-East (Ladin)||79||60.8%||Balaresque et al. (2009)|
|Spain||Galicia||88||58.0%||Balaresque et al. (2009)|
|Spain||West Andalucia||72||55.0%||Balaresque et al. (2009)|
|Portugal||South||78||46.2%||Balaresque et al. (2009)|
|Italy||North-West||99||45.0%||Balaresque et al. (2009)|
|Denmark||National||56||42.9%||Balaresque et al. (2009)|
|Netherlands||National||84||42.0%||Balaresque et al. (2009)|
|Italy||North East||67||41.8%||Battaglia et al. (2008)|
|Germany||Bavaria||80||32.3%||Balaresque et al. (2009)|
|Italy||West Sicily||122||30.3%||Di Gaetano et al. (2009)|
|Poland||National||110||22.7%||Myres et al. (2007)|
|Serbia||National||100||10.0%||Belaresque et al. (2009)|
|Slovenia||National||75||21.3%||Battaglia et al. (2008)|
|Slovenia||National||70||20.6%||Balaresque et al. (2009)|
|Turkey||Central||152||19.1%||Cinnioğlu et al. (2004)|
|Republic of Macedonia||National||64||18.8%||Battaglia et al. (2008)|
|Italy||East Sicily||114||18.4%||Di Gaetano et al. (2009)|
|Crete||National||193||17.0%||King et al. (2008)|
|Italy||Sardinia||930||17.0%||Contu et al. (2008)|
|Iran||North||33||15.2%||Regueiro et al. (2006)|
|Greece||National||171||13.5%||King et al. (2008)|
|Turkey||West||163||13.5%||Cinnioğlu et al. (2004)|
|Turkey||East||208||12.0%||Cinnioğlu et al. (2004)|
|Algeria||Northwest (Oran area)||102||11.8%||Robino et al. (2008)|
|Russia||Roslavl (Smolensk Oblast)||107||11.2%||Balanovsky et al. (2008)|
|Iraq||National||139||10.8%||Al-Zahery et al. (2003)|
|Nepal||Newar||66||10.60%||Gayden et al. (2007)|
|Bulgaria||National||808||10.5%||Karachanak et al. (2013)|
|Tunisia||Tunis||139||7.2%||Adams et al. (2008)|
|Algeria||Algiers, Tizi Ouzou||46||6.5%||Adams et al. (2008)|
|Bosnia-Herzegovina||Serbs||81||6.2%||Marjanovic et al. (2005)|
|Iran||South||117||6.0%||Regueiro et al. (2006)|
|Russia||Repyevka (Voronezh Oblast)||96||5.2%||Balanovsky et al. (2008)|
|UAE||164||3.7%||Cadenas et al. (2007)|
|Bosnia-Herzegovina||Bosniaks||85||3.5%||Marjanovic et al. (2005)|
|Pakistan||176||2.8%||Sengupta et al. (2006)|
|Russia||Belgorod||143||2.8%||Balanovsky et al. (2008)|
|Russia||Ostrov (Pskov Oblast)||75||2.7%||Balanovsky et al. (2008)|
|Russia||Pristen (Kursk Oblast)||45||2.2%||Balanovsky et al. (2008)|
|Bosnia-Herzegovina||Croats||90||2.2%||Marjanovic et al. (2005)|
|Qatar||72||1.4%||Cadenas et al. (2007)|
|China||128||0.8%||Sengupta et al. (2006)|
|India||various||728||0.5%||Sengupta et al. (2006)|
|Croatia||Osijek||29||0.0%||Battaglia et al. (2008)|
|Yemen||62||0.0%||Cadenas et al. (2007)|
|Tibet||156||0.0%||Gayden et al. (2007)|
|Nepal||Tamang||45||0.0%||Gayden et al. (2007)|
|Nepal||Kathmandu||77||0.0%||Gayden et al. (2007)|
|Japan||23||0.0%||Sengupta et al. (2006)|
This subclade is defined by the presence of the SNP U106, also known as S21 and M405. It appears to represent over 25% of R1b in Europe and is most common in the Netherlands and the northern half of Belgium.
While this sub-clade of R1b is frequently discussed amongst genetic genealogists, the following table represents the peer-reviewed findings published so far in the 2007 articles of Myres et al. and Sims et al.
|Central/South America ||33||0.0%||0.0%||0.0%|
|Czech Republic ||36||28%||14%||0.0%|
Along with R-U106, R-P312 is one of the most common types of R1b1a2 (R-M269) in Europe. Also known as S116, it has been the subject of significant study concerning its sub-clades, and some of the ones recognized by the ISOGG website are summarized in the following table. Myres et al. described it distributing from the west of the Rhine basin.
Amongst these, scientific publications have given interpretation and comment on several:-
R-P312-2 (R-Z196) unites several branches of R-P312:-
- R-P312-2a (R-M153)is defined by the presence of the marker M153. It has been found mostly in Basques and Gascons, among whom it represents a sizeable fraction of the Y-DNA pool, though is also found occasionally among Iberians in general. The first time it was located (Bosch 2001) it was described as H102 and included 7 Basques and one Andalusian.
- R-P312-2b (R-L176.2) This subclade is defined by the presence of the marker L176.2. It contains the following:
- R-P312-2ba (R-SRY2627).
- This subclade is defined by the presence of the marker M167, also known as SRY2627. The first author to test for this marker (long before current haplogroup nomenclature existed) was Hurles in 1999, who tested 1158 men in various populations. He found it relatively common among Basques (13/117: 11%) and Catalans (7/32: 22%). Other occurrences were found among other French, British, Spaniards, Béarnais, and Germans.
- In 2000 Rosser et al., in a study which tested 3616 men in various populations also tested for that same marker, naming the haplogroup Hg22, and again it was found mainly among Basques (19%), in lower frequencies among French (5%), Bavarians (3%), Spaniards (2%), Southern Portuguese (2%), and in single occurrences among Romanians, Slovenians, Dutch, Belgians and English.::In 2001 Bosch described this marker as H103, in 5 Basques and 5 Catalans. Further regional studies have located it in significant amounts in Asturias, Cantabria and Galicia, as well as again among Basques. Cases in the Azores have also been reported. In 2008 two research papers by López-Parra and Adams, respectively, confirmed a strong association with all or most of the Pyrenees and Eastern Iberia.
- In a larger study of Portugal in 2006, with 657 men tested, Beleza et al. confirmed similar low levels in all the major regions, from 1.5%-3.5%.
- R-P312-2b2 (R-L165). This subclade is defined by the presence of the marker S68, also known as L165. It is found in England, Scandinavia, and Scotland (in this country it is mostly found in the Northern Isles and Western Isles). It has been suggested, therefore, that it arrived in the British Isles with Vikings.
R-P312-3 (R-U152) is defined by the presence of the marker U152, also called S28. Its discovery was announced in 2005 by EthnoAncestry and subsequently identified independently by Sims et al. (2007). Myres et al. report this clade "is most frequent (20-44%) in Switzerland, Italy, France and Western Poland, with additional instances exceeding 15% in some regions of England and Germany." Similarly Cruciani et al. reported frequency peaks in Northern Italy and France. Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28. Far removed from this apparent core area, Myres et al. also mention a sub-population in north Bashkortostan where 71% of 70 men tested were in R-U152. They propose this to be the result of an isolated founder effect.
R-P312-4 (R-L21) is defined by the presence of the marker L21, also referred to as M529 and S145. Myres et al. report it is most common in England and Ireland (25-50% of the whole male population). Known sub-clades include the following:-
- R-P312-4b (R-M222). This subclade within R-L21 is defined by the presence of the marker M222. It is particularly associated with male lines which are Irish or Scottish, but especially northern Irish. In this case, the relatively high frequency of this specific subclade among the population of certain counties in northwestern Ireland may be due to positive social selection, as it is suggested to have been the Y-chromosome haplogroup of the Uí Néill dynastic kindred of ancient Ireland. However it is not restricted to the Uí Néill as it is also associated with the closely related Connachta dynasties, the Uí Briúin and Uí Fiachrach. M222 is also found as a substantial proportion of the population of Scotland which may indicate substantial settlement from northern Ireland or at least links to it. Those areas settled by large numbers of Irish and Scottish emigrants such as North America have a substantial percentage of M222.
- R-P312-4f (R-L159.2). This subclade within R-L21 is defined by the presence of the marker L159 and is known as L159.2 because of a parallel mutation that also exists inside haplogroup I2a1 (L159.1). L159.2 appears to be associated with the Kings of Leinster and Diarmait Mac Murchada. It can also be found in the coastal areas of the Irish Sea including the Isle of Man and the Hebrides, as well as Norway, western and southern Scotland, northern and southern England, northwest France, and northern Denmark.
- R-P312-4g (R-L193). This subclade within R-L21 is defined by the presence of the marker L193. Many surnames with this marker are associated geographically with the western "Border Region" of Scotland. A few other surnames have a Highland association. R-L193 is a relatively young subclade likely born within the last 2000 years.
- R-P312-4h (R-L226). This subclade within R-L21 is defined by the presence of the marker L226, also known as S168. Commonly referred to as Irish Type III, it is concentrated in central western Ireland and associated with the Dál gCais kindred.
- R-DF21. This subclade within R-L21 is defined by the presence of the marker DF21 aka S192. It makes up about 10% of all L21 men and is c.3000 years old.
R1b1b is defined by the presence of SNP marker M335. This haplogroup was created by the 2008 reorganisation of nomenclature and should not be confused with R1b1b2, which was previously called R1b1c. Its position in relation to the much more populous sub-clade R1b1b is uncertain. The M335 marker was first published in 2004, when one example was discovered in Turkey, which was classified at that time as R1b4.
R1b1c (formerly R1b1a) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al. Apart from individuals in southern Europe and Western Asia, the majority of R-V88 was found in northern and central Africa:
|Region||Population||Country||Language||N||Total%||R1b1c (R-V88)||R1b1a2 (R-M269)||R1b1c* (R-V88*)||R1b1c4 (R-V69)|
|N Africa||Mozabite Berbers||Algeria||AA/Berber||67||3.0%||3.0%||0.0%||3.0%||0.0%|
|N Africa||Northern Egyptians||Egypt||AA/Semitic||49||6.1%||4.1%||2.0%||4.1%||0.0%|
|N Africa||Berbers from Siwa||Egypt||AA/Berber||93||28.0%||26.9%||1.1%||23.7%||3.2%|
|N Africa||Gurna Oasis||Egypt||AA/Semitic||34||0.0%||0.0%||0.0%||0.0%||0.0%|
|N Africa||Southern Egyptians||Egypt||AA/Semitic||69||5.8%||5.8%||0.0%||2.9%||2.9%|
|C Africa||Hausa||Nigeria (North)||AA/Chadic||10||20.0%||20.0%||0.0%||20.0%||0.0%|
|C Africa||Fulbe||Nigeria (North)||NC/Atlantic||32||0.0%||0.0%||0.0%||0.0%||0.0%|
|C Africa||Yorubad||Nigeria (South)||NC/Defoid||21||4.8%||4.8%||0.0%||4.8%||0.0%|
|C Africa||Ouldeme||Cameroon (Nth)||AA/Chadic||22||95.5%||95.5%||0.0%||95.5%||0.0%|
|C Africa||Mada||Cameroon (Nth)||AA/Chadic||17||82.4%||82.4%||0.0%||76.5%||5.9%|
|C Africa||Mafa||Cameroon (Nth)||AA/Chadic||8||87.5%||87.5%||0.0%||25.0%||62.5%|
|C Africa||Guiziga||Cameroon (Nth)||AA/Chadic||9||77.8%||77.8%||0.0%||22.2%||55.6%|
|C Africa||Daba||Cameroon (Nth)||AA/Chadic||19||42.1%||42.1%||0.0%||36.8%||5.3%|
|C Africa||Guidar||Cameroon (Nth)||AA/Chadic||9||66.7%||66.7%||0.0%||22.2%||44.4%|
|C Africa||Massa||Cameroon (Nth)||AA/Chadic||7||28.6%||28.6%||0.0%||14.3%||14.3%|
|C Africa||Other Chadic||Cameroon (Nth)||AA/Chadic||4||75.0%||75.0%||0.0%||25.0%||50.0%|
|C Africa||Shuwa Arabs||Cameroon (Nth)||AA/Semitic||5||40.0%||40.0%||0.0%||40.0%||0.0%|
|C Africa||Kanuri||Cameroon (Nth)||NS/Saharan||7||14.3%||14.3%||0.0%||14.3%||0.0%|
|C Africa||Foulbe||Cameroon (Nth)||NC/Atlantic||18||11.1%||11.1%||0.0%||5.6%||5.6%|
|C Africa||Moundang||Cameroon (Nth)||NC/Adamawa||21||66.7%||66.7%||0.0%||14.3%||52.4%|
|C Africa||Fali||Cameroon (Nth)||NC/Adamawa||48||20.8%||20.8%||0.0%||10.4%||10.4%|
|C Africa||Tali||Cameroon (Nth)||NC/Adamawa||22||9.1%||9.1%||0.0%||4.5%||4.5%|
|C Africa||Mboum||Cameroon (Nth)||NC/Adamawa||9||0.0%||0.0%||0.0%||0.0%||0.0%|
|C Africa||Composite||Cameroon (Sth)||NC/Bantu||90||0.0%||1.1%||0.0%||1.1%||0.0%|
|C Africa||Biaka Pygmies||CAR||NC/Bantu||33||0.0%||0.0%||0.0%||0.0%||0.0%|
As can be seen in the above data table, R1b1c is found in northern Cameroon in west central Africa at a very high frequency, where it is considered to be caused by a pre-Islamic movement of people from Eurasia.
Suggestive results from other studies which did not test for the full range of new markers discovered by Cruciani et al. have also been reported, which might be in R-V88.
- Wood et al. reported high frequencies of men who were P25 positive and M269 negative, amongst the same north Cameroon area where Cruciani et al. reported high R-V88 levels. However they also found such cases amongst 3% (1/32) of Fante from Ghana, 9% (1/11) of Bassa from southern Cameroon, 4% (1/24) of Herero from Namibia, 5% (1/22) of Ambo from Namibia, 4% (4/92) of Egyptians, and 4% (1/28) of Tunisians.
- Luis et al. found the following cases of men M173 positive (R1), but negative for M73 (R1b1b1), M269 (R1b1b2), M18 (R1b1a1, a clade with V88, M18 having been discovered before V88) and M17 (R1a1a): 1 of 121 Omanis, 3 of 147 Egyptians, 2 of 14 Bantu from southern Cameroon, and 1 of 69 Hutu from Rwanda.
- Pereira et al. (2010) in a study of several Saharan Tuareg populations, found one third of 31 men tested from near Tanut in Niger to be in R1b.
In popular culture
Bryan Sykes, in his book Blood of the Isles, gives the populations associated with R1b the name of Oisín for a clan patriarch, much as he did for mitochondrial haplogroups in The Seven Daughters of Eve.
Stephen Oppenheimer also deals with this haplogroup in his book Origins of the British, giving the R1b clan patriarch the Basque name "Ruisko" in honour of what he thinks is the Iberian origin of R1b.
- Human Y-chromosome DNA haplogroup
- Atlantic Modal Haplotype
- Genealogical DNA test
- Prehistoric Europe
- Y-DNA haplogroups in European populations
|Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups|
- Karafet, TM; Mendez, FL; Meilerman, MB; Underhill, PA; Zegura, SL; Hammer, MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274.
- International Society of Genetic Genealogy (ISOGG) - Y-DNA Haplogroup R and its Subclades
- Cinnioğlu, C; King, R; Kivisild, T; Kalfoğlu, E; Atasoy, S; Cavalleri, GL; Lillie, AS; Roseman, CC et al. (2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics 114 (2): 127–48. doi:10.1007/s00439-003-1031-4. PMID 14586639.
- Y Chromosome Consortium (18 January 2002). "YCC NRY Tree 2002". Retrieved 13 December 2007.
- Wilson, James F.; Weiss, Deborah A.; Richards, Martin; Thomas, Mark G.; Bradman, Neil; Goldstein, David B. (2001). "Genetic evidence for different male and female roles during cultural transitions in the British Isles". PNAS 98 (9): 5078–5083. Bibcode:2001PNAS...98.5078W. doi:10.1073/pnas.071036898. PMC 33166. PMID 11287634.
- Myres, Natalie; Rootsi, Siiri; Lin, Alice A; Järve, Mari; King, Roy J; Kutuev, Ildus; Cabrera, Vicente M; Khusnutdinova, Elza K et al. (2010). "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe". European Journal of Human Genetics 19 (1): 95–101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979
- Semino, O., Passarino, G, Oefner, PJ, Lin, AA, Arbuzova, S, Beckman, LE, De Benedictis, G, Francalacci, P, Kouvatsi, A (2000). "The genetic legacy of paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science 290 (5494): 1155–59. doi:10.1126/science.290.5494.1155. PMID 11073453.
- Balaresque et al. (2010). "A Predominantly Neolithic Origin for European Paternal Lineages". In Penny, David. PLoS Biol. 8 (1): 119–22. doi:10.1371/journal.pbio.1000285. PMC 2799514. PMID 20087410.
- Sjödin, Per; François, Olivier (2011). "Wave-of-Advance Models of the Diffusion of the Y Chromosome Haplogroup R1b1b2 in Europe". In Lalueza-Fox, Carles. PLoS ONE 6 (6:e21592): e21592. doi:10.1371/journal.pone.0021592
- B. Arredi, E. S. Poloni and C. Tyler-Smith (2007). "The peopling of Europe". In Crawford, Michael H. Anthropological genetics: theory, methods and applications. Cambridge, UK: Cambridge University Press. p. 394. ISBN 0-521-54697-4.
- Morelli, Laura; Contu, Daniela; Santoni, Federico; Whalen, Michael B.; Francalacci, Paolo; Cucca, Francesco (2010). "A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture". In Lalueza-Fox, Carles. PLoS ONE 5 (4): e10419. doi:10.1371/journal.pone.0010419. PMC 2861676. PMID 20454687
- Chiaroni, J; Underhill, P; Cavalli-Sforza, L.L. (2009). "Y chromosome diversity, human expansion, drift and cultural evolution". PNAS 106 (48): 20174:20179. doi:10.1073/pnas.0910803106. PMC 2787129. PMID 19920170
- Cruciani et al.; Trombetta, Beniamino; Antonelli, Cheyenne; Pascone, Roberto; Valesini, Guido; Scalzi, Valentina; Vona, Giuseppe; Melegh, Bela et al. (2010). "Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152". Forensic Science International: Genetics 5 (3): e49. doi:10.1016/j.fsigen.2010.07.006
- Lee, Esther J.; et al (3 May 2012). "Emerging genetic patterns of the european neolithic: Perspectives from a late neolithic bell beaker burial site in Germany". American Journal of Physical Anthropology 148 (4): 571–9. doi:10.1002/ajpa.22074. PMID 22552938.
- Lacan, Marie; et al (May 2, 2011). "Ancient DNA reveals male diffusion through the Neolithic Mediterranean route". Proceedings of the National Academy of Sciences of the United States of America 108 (24): 9788–91. doi:10.1073/pnas.1100723108. PMC 3116412. PMID 21628562.
- Haak, Wolfgang; et al (November 2010). "Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities". In Penny, David. PLoS Biology 8 (11): e1000536. doi:10.1371/journal.pbio.1000536. PMC 2976717. PMID 21085689.
- Flores, C; Maca-Meyer, N; Larruga, JM; Cabrera, VM; Karadsheh, N; Gonzalez, AM (2005). "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan". Journal of Human Genetics 50 (9): 435–41. doi:10.1007/s10038-005-0274-4. PMID 16142507.
- Hassan, HY; Underhill, PA; Cavalli-Sforza, LL; Ibrahim, ME (2008). "Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history". American Journal of Physical Anthropology 137 (3): 316–23. doi:10.1002/ajpa.20876. PMID 18618658. "13/32"
- Wood, ET; Stover, DA; Ehret, C; Destro-Bisol, G; Spedini, G; Mcleod, H; Louie, L; Bamshad, M et al. (2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes". European Journal of Human Genetics 13 (7): 867–76. doi:10.1038/sj.ejhg.5201408. PMID 15856073.
- Adams, SM; King, TE; Bosch, E; Jobling, MA (2006). "The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion". Forensic Science International 159 (1): 14–20. doi:10.1016/j.forsciint.2005.06.003. PMID 16026953.
- Cruciani et al.; Trombetta, B; Sellitto, D; Massaia, A; Destro-Bisol, G; Watson, E; Beraud Colomb, E; Dugoujon, JM et al. (2010). "Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages". European Journal of Human Genetics 18 (7): 800–7. doi:10.1038/ejhg.2009.231. PMC 2987365. PMID 20051990.
- Varzari, Alexander (2006). "Population History of the Dniester-Carpathians: Evidence from Alu Insertion and Y-Chromosome Polymorphisms". Dissertation der Fakultät für Biologie der Ludwig-Maximilians-Universität München.
- Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations", Nature Genetics, Volume 26, November 2000
- Sengupta, S; Zhivotovsky, LA; King, R; Mehdi, SQ; Edmonds, CA; Chow, CE; Lin, AA; Mitra, M et al. (February 2006). "Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists". American Journal of Human Genetics 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607. "8/176 R-M73 and 5/176 R-M269 for a total of 13/176 R1b in Pakistan and 4/728 R-M269 in India"
- A. S. Lobov et al. (2009), "Structure of the Gene Pool of Bashkir Subpopulations" (original text in Russian)
- Martinez, Laisel; Underhill, Peter A; Zhivotovsky, Lev A; Gayden, Tenzin; Moschonas, Nicholas K; Chow, Cheryl-Emiliane T; Conti, Simon; Mamolini, Elisabetta et al. (2007). "Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau". European Journal of Human Genetics 15 (4): 485–493. doi:10.1038/sj.ejhg.5201769. PMID 17264870
- Myres, NM; Ekins, JE; Lin, AA; Cavalli-Sforza, LL; Woodward, SR; Underhill, PA (2007). "Y-chromosome Short Tandem Repeat DYS458.2 Non-consensus Alleles Occur Independently in Both Binary Haplogroups J1-M267 and R1b3-M405". Croatian medical journal 48 (4): 450–9. PMC 2080563. PMID 17696299.
- Kristian J Herrera et al., Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists, European Journal of Human Genetics, (advance online 16 November 2011).
- Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample
- Semino, O; Passarino, G; Oefner, PJ; Lin, AA; Arbuzova, S; Beckman, LE; De Benedictis, G; Francalacci, P et al. (2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science 290 (5494): 1155–9. doi:10.1126/science.290.5494.1155. PMID 11073453.
- Vanek, Daniel; Saskovat and Koch (June 2009). "Kinship and Y-Chromosome Analysis of 7th Century Human Remains: Novel DNA Extraction and Typing Procedure for Ancient Material". Croatian Medical Journal. 3 50 (3): 286–295. doi:10.3325/cmj.2009.50.286. PMC 2702742. PMID 19480023.
- Moore et al.; McEvoy, B; Cape, E; Simms, K; Bradley, DG (2006). "A Y-Chromosome Signature of Hegemony in Gaelic Ireland". American Journal of Human Genetics 78 (2): 334–8. doi:10.1086/500055. PMC 1380239. PMID 16358217.
- Battaglia, V; Fornarino, S; Al-Zahery, N; Olivieri, A; Pala, M; Myres, NM; King, RJ; Rootsi, S et al. (2009). "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe". European Journal of Human Genetics 17 (6): 820–30. doi:10.1038/ejhg.2008.249. PMC 2947100. PMID 19107149.
- Di Gaetano, C; Cerutti, N; Crobu, F; Robino, C; Inturri, S; Gino, S; Guarrera, S; Underhill, PA et al. (2009). "Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome". European Journal of Human Genetics 17 (1): 91–9. doi:10.1038/ejhg.2008.120. PMC 2985948. PMID 18685561. "57/232"
- King, RJ; Ozcan, SS; Carter, T; Kalfoğlu, E; Atasoy, S; Triantaphyllidis, C; Kouvatsi, A; Lin, AA et al. (2008). "Differential Y-chromosome Anatolian influences on the Greek and Cretan Neolithic". Annals of Human Genetics 72 (Pt 2): 205–14. doi:10.1111/j.1469-1809.2007.00414.x. PMID 18269686.
- Contu, D; Morelli, L; Santoni, F; Foster, JW; Francalacci, P; Cucca, F; Hawks, John (2008). "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans". In Hawks, John. PLoS ONE 3 (1): e1430. doi:10.1371/journal.pone.0001430. PMC 2174525. PMID 18183308. "174/930"
- Regueiro et al., M; Cadenas, AM; Gayden, T; Underhill, PA; Herrera, RJ (2006). "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration". Hum Hered 61 (3): 132–143. doi:10.1159/000093774. PMID 16770078.
- Robino et al.; Crobu, F; Di Gaetano, C; Bekada, A; Benhamamouch, S; Cerutti, N; Piazza, A; Inturri, S et al. (2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample". Journal International Journal of Legal Medicine 122 (3): 251–5. doi:10.1007/s00414-007-0203-5. PMID 17909833.
- Balanovsky et al., O; Rootsi, S; Pshenichnov, A; Kivisild, T; Churnosov, M; Evseeva, I; Pocheshkhova, E; Boldyreva, M et al. (2008). "Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context". AJHG 82 (1): 236–250. doi:10.1016/j.ajhg.2007.09.019. PMC 2253976. PMID 18179905.
- Al-Zahery, N; Semino, O; Benuzzi, G; Magri, C; Passarino, G; Torroni, A; Santachiara-Benerecetti, AS (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics & Evolution 28 (3): 458–72. doi:10.1016/S1055-7903(03)00039-3. PMID 12927131. "16/139"
- Gayden, T; Cadenas, AM; Regueiro, M; Singh, NB; Zhivotovsky, LA; Underhill, PA; Cavalli-Sforza, LL; Herrera, RJ (2007). "The Himalayas as a Directional Barrier to Gene Flow". American Journal of Human Genetics 80 (5): 884–94. doi:10.1086/516757. PMC 1852741. PMID 17436243.
- Karachanak S, Grugni V, Fornarino S, et al. (2013). "Y-chromosome diversity in modern Bulgarians: new clues about their ancestry". PLoS ONE 8 (3): e56779. doi:10.1371/journal.pone.0056779. PMC 3590186. PMID 23483890.
- Adams, SM; Bosch, E; Balaresque, PL; Ballereau, SJ; Lee, AC; Arroyo, E; López-Parra, AM; Aler, M et al. (2008). "The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula". American Journal of Human Genetics 83 (6): 725–36. doi:10.1016/j.ajhg.2008.11.007. PMC 2668061. PMID 19061982.
- Marjanovic D, Fornarino S, Montagna S, et al. (November 2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups". Annals of Human Genetics 69 (Pt 6): 757–63. doi:10.1111/j.1529-8817.2005.00190.x. PMID 16266413.
- Cadenas et al.; Zhivotovsky, LA; Cavalli-Sforza, LL; Underhill, PA; Herrera, RJ (2007). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics 16 (3): 1–13. doi:10.1038/sj.ejhg.5201934. PMID 17928816.
- Sims, LM; Garvey, D; Ballantyne, J (2007). "Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs". Human Mutation 28 (1): 97. doi:10.1002/humu.9469. PMID 17154278.
- López-Parra, AM; Gusmão, L; Tavares, L; Baeza, C; Amorim, A; Mesa, MS; Prata, MJ; Arroyo-Pardo, E (2009). "In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations". Annals of Human Genetics 73 (1): 42–53. doi:10.1111/j.1469-1809.2008.00478.x. PMID 18803634.
- Bosch, E; Calafell, F; Comas, D; Oefner, PJ; Underhill, PA; Bertranpetit, J (2001). "High-Resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula". American Journal of Human Genetics 68 (4): 1019–29. doi:10.1086/319521. PMC 1275654. PMID 11254456.
- Hurles, ME; Veitia, R; Arroyo, E; Armenteros, M; Bertranpetit, J; Pérez-Lezaun, A; Bosch, E; Shlumukova, M et al. (1999). "Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism". American Journal of Human Genetics 65 (5): 1437–48. doi:10.1086/302617. PMC 1288297. PMID 10521311.
- Rosser, ZH; Zerjal, T; Hurles, ME; Adojaan, M; Alavantic, D; Amorim, A; Amos, W; Armenteros, M et al. (2000). "Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language". American Journal of Human Genetics 67 (6): 1526–43. doi:10.1086/316890. PMC 1287948. PMID 11078479.
- Beleza, S; Gusmão, L; Lopes, A; Alves, C; Gomes, I; Giouzeli, M; Calafell, F; Carracedo, A et al. (2006). "Micro-phylogeographic and demographic history of Portuguese male lineages". Annals of Human Genetics 70 (Pt 2): 181–94. doi:10.1111/j.1529-8817.2005.00221.x. PMID 16626329. "395/657"
- Moffat, Alistair; Wilson, James F. (2011). The Scots: a genetic journey. Birlinn. pp. 181–182, 192. ISBN 978-0-85790-020-3
- http://ethnoancestry.com/R1b.html[unreliable source?]
- Fulvio Cruciani et al., Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152, Forensic Science International, (advance online publication, 22 August 2010).
- Niederstätter, Harald; Berger, Burkhard; Erhart, Daniel; Parson, Walther (2008). "Recently introduced Y-SNPs improve the resolution within Y-chromosome haplogroup R1b in a central European population sample (Tyrol, Austria)". Forensic Science International: Genetics Supplement Series 1: 226. doi:10.1016/j.fsigss.2007.10.158
- O'Neill; McLaughlin (2006). "Insights Into the O'Neills of Ireland from DNA Testing". Journal of Genetic Genealogy
- Campbell, Kevin D. (2007). "Geographic Patterns of Haplogroup R1b in the British Isles". Journal of Genetic Genealogy 3: 1–13.
- "R-L159 Project Goals"
- Wright (2009). "A Set of Distinctive Marker Values Defines a Y-STR Signature for Gaelic Dalcassian Families". Journal of Genetic Genealogy.
- "R-DF21 and Subclades Project".
- Cruciani, F; Santolamazza, P; Shen, P; Macaulay, V; Moral, P; Olckers, A; Modiano, D; Holmes, S et al. (2002). "A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes". American Journal of Human Genetics 70 (5): 1197–214. doi:10.1086/340257. PMC 447595. PMID 11910562. , pp. 13–14
- Luis, JR; Rowold, DJ; Regueiro, M; Caeiro, B; Cinnioğlu, C; Roseman, C; Underhill, PA; Cavalli-Sforza, LL et al. (2004). "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations". American Journal of Human Genetics 74 (3): 532–44. doi:10.1086/382286. PMC 1182266. PMID 14973781.
- Pereira et al.; Cerný, V; Cerezo, M; Silva, NM; Hájek, M; Vasíková, A; Kujanová, M; Brdicka, R et al. (2010). "Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel". European Journal of Human Genetics 18 (8): 915–23. doi:10.1038/ejhg.2010.21. PMC 2987384. PMID 20234393
- Contu, D; Morelli; Santoni; Foster; Francalacci; Cucca (2008). "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans". PLoS ONE 3 (1): e1430. doi:10.1371/journal.pone.0001430. PMC 2174525. PMID 18183308.
- Zalloua, PA; Xue, Y; Khalife, J; Makhoul, N; Debiane, L; Platt, DE; Royyuru, AK; Herrera, RJ; Hernanz, DF et al. (2008). "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events". American Journal of Human Genetics 82 (4): 873–82. doi:10.1016/j.ajhg.2008.01.020. PMC 2427286. PMID 18374297.
- "Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K, et al. (2009) Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis". PLoS ONE. doi:10.1371/journal.pone.0004838#pone-0004838-g003 (inactive 2014-02-01).