Genetic variation is the difference in DNA among individuals or the differences between populations. There are multiple sources of genetic variation, including mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, but other mechanisms such as sexual reproduction and genetic drift contribute to it as well.
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Among individuals within a population
Genetic variation can be identified at many levels. It is possible to identify genetic variation from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes (e.g., leg length in dogs)) or discrete traits (traits that fall into discrete categories and are coded for by one or a few genes (e.g., white, pink, red petal color in certain flowers)).
Genetic variation can also be identified by examining variation at the level of enzymes using the process of protein electrophoresis. Polymorphic genes have more than one allele at each locus. Half of the genes that code for enzymes in insects and plants may be polymorphic, whereas polymorphisms are less common among vertebrates.
Ultimately, genetic variation is caused by variation in the order of bases in the nucleotides in genes. New technology now allows scientists to directly sequence DNA which has identified even more genetic variation than was previously detected by protein electrophoresis. Examination of DNA has shown genetic variation in both coding regions and in the non-coding intron region of genes.
Genetic variation will result in phenotypic variation if variation in the order of nucleotides in the DNA sequence results in a difference in the order of amino acids in proteins coded by that DNA sequence, and if the resultant differences in amino acid sequence influence the shape, and thus the function of the enzyme.
Genetic variation within a population is commonly measured as the percentage of polymorphic gene loci or the percentage of gene loci in heterozygous individuals.
Random mutations are the ultimate source of genetic variation. Mutations are likely to be rare and most mutations are neutral or deleterious, but in some instances, the new alleles can be favored by natural selection.
Polyploidy is an example of chromosomal mutation. Polyploidy is a condition wherein organisms have three or more sets of genetic variation (3n or more).
Crossing over (genetic recombination) and random segregation during meiosis can result in the production of new alleles or new combinations of alleles. Furthermore, random fertilization also contributes to variation.
For a given genome of a multicellular organism, genetic variation may be acquired in somatic cells or inherited through the germline.
Genetic variation can be divided into different forms according to the size and type of genomic variation underpinning genetic change. Small-scale sequence variation (<1 kilobase, kb) includes base-pair substitution and indels. Large-scale structural variation (>1 kb) can be either copy number variation (loss or gain), or chromosomal rearrangement (translocation, inversion, or Segmental acquired uniparental disomy). Genetic variation and recombination by transposable elements and endogenous retroviruses sometimes is supplemented by a variety of persistent viruses and their defectives which generate genetic novelty in host genomes. Numerical variation in whole chromosomes or genomes can be either polyploidy or aneuploidy.
Maintenance in populations
A variety of factors maintain genetic variation in populations. Potentially harmful recessive alleles can be hidden from selection in the heterozygous individuals in populations of diploid organisms (recessive alleles are only expressed in the less common homozygous individuals). Natural selection can also maintain genetic variation in balanced polymorphisms. Balanced polymorphisms may occur when heterozygotes are favored or when selection is frequency dependent.
A high mutation rate caused by the lack of a proofreading mechanism appears to be a major source of the genetic variation that contributes to RNA virus evolution. Genetic recombination also has been shown to play a key role in generating the genetic variation that underlies RNA virus evolution. Numerous RNA viruses are capable of genetic recombination when at least two viral genomes are present in the same host cell. RNA recombination appears to be a major driving force in determining genome architecture and the course of viral evolution among Picornaviridae ((+)ssRNA) (e.g. poliovirus). In the Retroviridae ((+)ssRNA)(e.g. HIV), damage in the RNA genome appears to be avoided during reverse transcription by strand switching, a form of genetic recombination. Recombination also occurs in the Coronaviridae ((+)ssRNA) (e.g. SARS). Recombination in RNA viruses appears to be an adaptation for coping with genome damage. Recombination can occur infrequently between animal viruses of the same species but of divergent lineages. The resulting recombinant viruses may sometimes cause an outbreak of infection in humans.
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