Allele frequency in the context of "Fixation (population genetics)"

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⭐ Core Definition: Allele frequency

Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size. Evolution is the change in allele frequencies that occurs over time within a population.

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πŸ‘‰ Allele frequency in the context of Fixation (population genetics)

In population genetics, fixation is the change in a gene pool from a situation where there exists at least two variants of a particular gene (allele) in a given population to a situation where only one of the alleles remains. That is, the allele becomes fixed. In the absence of mutation or heterozygote advantage, any allele must eventually either be lost completely from the population, or fixed, i.e. permanently established at 100% frequency in the population. Whether a gene will ultimately be lost or fixed is dependent on selection coefficients and chance fluctuations in allelic proportions. Fixation can refer to a gene in general or particular nucleotide position in the DNA chain (locus).

In the process of substitution, a previously non-existent allele arises by mutation and undergoes fixation by spreading through the population by random genetic drift or positive selection. Once the frequency of the allele is at 100%, i.e. being the only gene variant present in any member, it is said to be "fixed" in the population.

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Allele frequency in the context of Genetic drift

Genetic drift, also known as random genetic drift, allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance.

Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation. It can also cause initially rare alleles to become much more frequent and even fixed.

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Allele frequency in the context of Cladogenesis

Cladogenesis is an evolutionary splitting of a parent species into two distinct species, forming a clade.

This event usually occurs when a few organisms end up in new, often distant areas or when environmental changes cause several extinctions, opening up ecological niches for the survivors and causing population bottlenecks and founder effects changing allele frequencies of diverging populations compared to their ancestral population. The events that cause these species to originally separate from each other over distant areas may still allow both of the species to have equal chances of surviving, reproducing, and even evolving to better suit their environments while still being two distinct species due to subsequent natural selection, mutations and genetic drift.

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Allele frequency in the context of Cline (biology)

In biology, a cline is a measurable gradient in a single characteristic (or biological trait) of a species across its geographical range. Clines usually have a genetic (e.g. allele frequency, blood type), or phenotypic (e.g. body size, skin pigmentation) character. They can show either smooth, continuous gradation in a character, or more abrupt changes in the trait from one geographic region to the next.

A cline is a spatial gradient in a single specific trait, rather than in a collection of traits; a single population can therefore have as many clines as it has traits, at least in principle. Additionally, as Julian Huxley recognised, these multiple independent clines may not act in concordance with each other. For example, it has been observed that in Australia, birds generally become smaller the further towards the north of the country they are found. In contrast, the intensity of their plumage colouration follows a different geographical trajectory, being most vibrant where humidity is highest and becoming less vibrant further into the arid centre of the country. Because of this, Huxley described the notion of clines as an "auxiliary taxonomic principle,” meaning that clinal variation in a species is not awarded taxonomic recognition in the way subspecies or species are.

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Allele frequency in the context of Recent human evolution

Recent human evolution refers to evolutionary adaptation, sexual and natural selection, and genetic drift within Homo sapiens populations, since their separation and dispersal in the Middle Paleolithic about 50,000 years ago. Contrary to popular belief, not only are humans still evolving, their evolution since the dawn of agriculture is faster than ever before. It has been proposed that human culture acts as a selective force in human evolution and has accelerated it; however, this is disputed. With a sufficiently large data set and modern research methods, scientists can study the changes in the frequency of an allele occurring in a tiny subset of the population over a single lifetime, the shortest meaningful time scale in evolution. Comparing a given gene with that of other species enables geneticists to determine whether it is rapidly evolving in humans alone. For example, while human DNA is on average 98% identical to chimpanzee DNA, the so-called Human Accelerated Region 1 (HAR1), involved in the development of the brain, is only 85% similar.

Following the peopling of Africa some 130,000 years ago, and the recent Out-of-Africa expansion some 70,000 to 50,000 years ago, some sub-populations of Homo sapiens have been geographically isolated for tens of thousands of years prior to the early modern Age of Discovery. Combined with archaic admixture, this has resulted in relatively significant genetic variation. Selection pressures were especially severe for populations affected by the Last Glacial Maximum (LGM) in Eurasia, and for sedentary farming populations since the Neolithic, or New Stone Age.

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Allele frequency in the context of Population stratification

Population structure (also called genetic structure and population stratification) is the presence of a systematic difference in allele frequencies between subpopulations. In a randomly mating (or panmictic) population, allele frequencies are expected to be roughly similar between groups. However, mating tends to be non-random to some degree, causing structure to arise. For example, a barrier like a river can separate two groups of the same species and make it difficult for potential mates to cross; if a mutation occurs, over many generations it can spread and become common in one subpopulation while being completely absent in the other.

Genetic variants do not necessarily cause observable changes in organisms, but can be correlated by coincidence because of population structureβ€”a variant that is common in a population that has a high rate of disease may erroneously be thought to cause the disease. For this reason, population structure is a common confounding variable in medical genetics studies, and accounting for and controlling its effect is important in genome wide association studies (GWAS). By tracing the origins of structure, it is also possible to study the genetic ancestry of groups and individuals.

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Allele frequency in the context of Gene-centred view of evolution

The gene-centered view of evolution, gene's eye view, gene selection theory, or selfish gene theory holds that adaptive evolution occurs through the differential survival of competing genes, increasing the allele frequency of those alleles whose phenotypic trait effects successfully promote their own propagation. The proponents of this viewpoint argue that, since heritable information is passed from generation to generation almost exclusively by DNA, natural selection and evolution are best considered from the perspective of genes.

Proponents of the gene-centered viewpoint argue that it permits understanding of diverse phenomena such as altruism and intragenomic conflict that are otherwise difficult to explain from an organism-centered viewpoint. Some proponents claim that the gene-centered view is the aspect of evolutionary theory that is the most empirically validated, has the greatest predictive power, and has the broadest applicability.

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