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For the scientific journal see Genetics (journal)
For a more accessible and less technical introduction to this topic, see Introduction to genetics.

Genetics (from the Greek genno γεννώ= give birth) is the science of genes, heredity, and the variation of organisms. The word "genetics" was first suggested to describe the study of inheritance and the science of variation by the prominent British scientist William Bateson in a personal letter to Adam Sedgwick, dated April 18, 1905. Bateson first used the term "genetics" publicly at the Third International Conference on Plant Hybridization (London, England) in 1906.

Heredity and variations form the basis of genetics. Humans applied knowledge of genetics in prehistory with the domestication and breeding of plants and animals. In modern research, genetics provides important tools for the investigation of the function of a particular gene, e.g., analysis of genetic interactions. Within organisms, genetic information generally is carried in chromosomes, where it is represented in the chemical structure of particular DNA (deoxyribonucleic acid) molecules.

Genes encode the information necessary for synthesizing the amino-acid sequences in proteins, which in turn play a large role in determining the final phenotype, or physical appearance, of the organism. In diploid organisms, a dominant allele on one chromosome will mask the expression of a recessive gene on the other. The only way that a recessive allele can be seen as a trait is if both parents contained that same recessive allele. Codominance is when both alleles for the same gene are considered dominant, in which case, both alleles will be present as traits.

The phrase to code for is often used to mean a gene contains the instructions about how to build a particular protein, as in the gene codes for the protein. The "one gene, one protein" concept is now known to be simplistic. For example, a single gene may produce multiple products, depending on how its transcription is regulated. Genes code for the nucleotide sequences in mRNA, tRNA and rRNA, required for protein synthesis.

Genetics determines much (but not all) of the appearance of organisms, including humans, and possibly how they act. Environmental differences and random factors also play a part. Monozygotic ("identical") twins, a clone resulting from the early splitting of an embryo, have the same DNA, but different personalities and fingerprints. Genetically-identical plants grown in colder climates incorporate shorter and less-saturated fatty acids to avoid stiffness.

History

Main article: History of genetics

In his paper "Versuche über Pflanzenhybriden" ("Experiments in Plant Hybridization"), presented in 1865 to the Brunn Natural History Society, Gregor Mendel traced the inheritance patterns of certain traits in pea plants and showed that they could be described mathematically. Although not all features show these patterns of Mendelian inheritance, his work suggested the utility of the application of statistics to the study of inheritance. Since that time many more complex forms of inheritance have been demonstrated.

The significance of Mendel's work was not understood until early in the twentieth century, after his death, when his research was re-discovered by other scientists working on similar problems.

Mendel did not understand the nature of inheritance. We now know that some heritable information is carried in DNA. (Retroviruses, including influenza, oncoviruses and HIV, and many plant viruses, carry information as RNA.) Manipulation of DNA can in turn alter the inheritance and features of various organisms.

Timeline of notable discoveries

Areas of genetics

Classical genetics

Main articles: Classical genetics, Mendelian inheritance

Classical genetics consists of the techniques and methodologies of genetics that predate the advent of molecular biology. After the discovery of the genetic code and such tools of cloning as restriction enzymes, the avenues of investigation open to geneticists were greatly broadened. Some classical genetic ideas have been supplanted with the mechanistic understanding brought by molecular discoveries, but many remain intact and in use, such as Mendel's laws and Muller's morphs. Patterns of inheritance still remain a useful tool for the study of genetic diseases.

Behavioral genetics

Main article: Behavioral genetics

Behavioral genetics studies the influence of varying genetics on animal behavior. Behavioral genetics studies the effects of human disorders as well as its causes. Behavioral genetics has yielded some very interesting questions about the evolution of various behaviors, and even some fundamental principles of evolution in general. For example, guppies and meerkats seem to be genetically driven to post a lookout to watch for predators. This lookout stands a significantly slimmer chance of survival than the others, so because of the mechanism of natural selection, it would seem that this trait would be lost after a few generations. However, the gene has remained, leading evolutionary philosopher/scientists such as Richard Dawkins and W. D. Hamilton to propose explanations, including the theories of kin selection and reciprocal altruism. The interactions and behaviors of gregarious creatures is partially genetic in cause and must therefore be approached by evolutionary theory.

Clinical genetics

Main article: Clinical genetics

Physicians who are trained as Geneticists diagnose, treat, and counsel patients with genetic disorders or syndromes. These doctors are typically trained in a genetics residency and/or fellowship.

Clinical genetics is also the study of genetic causes of clinical diseases.

Molecular genetics

Main article: Molecular genetics

Molecular genetics builds upon the foundation of classical genetics but focuses on the structure and function of genes at a molecular level. Molecular genetics employs the methods of both classical genetics (such as hybridization) and molecular biology. It is so-called to differentiate it from other sub fields of genetics such as ecological genetics and population genetics. An important area within molecular genetics is the use of molecular information to determine the patterns of descent, and therefore the correct scientific classification of organisms: this is called molecular systematics. The study of inherited features not strictly associated with changes in the DNA sequence is called epigenetics.

Some take the view that life can be defined, in molecular terms, as the set of strategies which RNA polynucleotides have used and continue to use to perpetuate themselves. This definition grows out of work on the origin of life, specifically the RNA world hypothesis.

Population, quantitative and ecological genetics

Main articles: Population genetics, Quantitative genetics, Ecological genetics

Population, quantitative and ecological genetics are all very closely related subfields and also build upon classical genetics (supplemented with modern molecular genetics). They are chiefly distinguished by a common theme of studying populations of organisms drawn from nature but differ somewhat in the choice of which aspect of the organism on which they focus. The foundational discipline is population genetics which studies the distribution of and change in allele frequencies of genes under the influence of the four evolutionary forces: natural selection, genetic drift, mutation and migration. It is the theory that attempts to explain such phenomena as adaptation and speciation.

The related subfield of quantitative genetics, which builds on population genetics, aims to predict the response to selection given data on the phenotype and relationships of individuals. A more recent development of quantitative genetics is the analysis of quantitative trait loci. Traits that are under the influence of a large number of genes are known as quantitative traits, and their mapping to a location on the chromosome requires accurate phenotypic, pedigree and marker data from a large number of related individuals.

Ecological genetics again builds upon the basic principles of population genetics but is more explicitly focused on ecological issues. While molecular genetics studies the structure and function of genes at a molecular level, ecological genetics focuses on wild populations of organisms, and attempts to collect data on the ecological aspects of individuals as well as molecular markers from those individuals.

Population genetics is closely linked with the methods of genetic epidemiology. One method to study gene-disease associations is using the principle of Mendelian randomization.

Genomics

Main article: Genomics

A more recent development is the rise of genomics, which attempts the study of large-scale genetic patterns across the genome for (and in principle, all the DNA in) a given species. The field typically depends on the availability of whole genome sequences, computational tools and Sequence profiling tool using bioinformatics approaches for analysis of large sets of data.

The science which grew out of the union of biochemistry and genetics is widely known as molecular biology. The term "genetics" is often widely conflated with the notion of genetic engineering, where the DNA of an organism is modified for some kind of practical end, but most research in genetics is aimed at understanding and explaining the effect of genes on phenotypes and in the role of genes in populations (see population genetics and ecological genetics), rather than genetic engineering.

Notes

  1. ^ Ernest W. Crow and James F. Crow (2002). "100 Years Ago: Walter Sutton and the Chromosome Theory of Heredity". Genetics. 160: 1-4.
  2. ^ Watson JD, Crick FH, Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid, Nature. 1953 Apr 25;171(4356):737-8
  3. ^ Min Jou W, Haegeman G, Ysebaert M, Fiers W., Nucleotide sequence of the gene coding for the bacteriophage MS2 coat protein, Nature. 1972 May 12;237(5350):82-8
  4. ^ Fiers W et al., Complete nucleotide-sequence of Bacteriophage MS2-RNA - primary and secondary structure of replicase gene, Nature, 260, 500-507, 1976
  5. ^ Sanger F, Air GM, Barrell BG, Brown NL, Coulson AR, Fiddes CA, Hutchison CA, Slocombe PM, Smith M., Nucleotide sequence of bacteriophage phi X174 DNA, Nature. 1977 Feb 24;265(5596):687-94

References

  • Lerner, Brenda Wilmoth & K. Lee Lerner (eds) (2006). Medicine, health, and bioethics : essential primary sources (1st ed. ed.). Thomson Gale. ISBN 1414406231. {{cite book}}: |author= has generic name (help); |edition= has extra text (help)
  • Daniel Hartl and Elizabeth Jones (2005). Genetics: Analysis of Genes and Genomes, 6th edition. Jones & Bartlett. 854 pages. ISBN 0-7637-1511-5.
  • Robert C. King, Willliam D. Stansfield, Pamela K. Mulligan (2006). A Dictionary of Genetics, 7th edition. New York: Oxford University Press.{{cite book}}: CS1 maint: multiple names: authors list (link) 596 pages. ISBN 0-19-530761-5 (paper).

See also

Journals

Wikibooks has a book on the topic of: Genetics
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