In population genetics an idealised population is one that can be described using a number of simplifying assumptions. Models of idealised populations are either used to make a general point, or they are fit to data on real populations for which the assumptions may not hold true. For example, coalescent theory is used to fit data to models of idealised populations. [1] The most common idealized population in population genetics is described in the Wright-Fisher model after Sewall Wright and Ronald Fisher (1922, 1930) and (1931). Wright-Fisher populations have constant size, and their members can mate and reproduce with any other member. Another example is a Moran model, which has overlapping generations, rather than the non-overlapping generations of the Fisher-Wright model. The complexities of real populations can cause their behavior to match an idealised population with an effective population size that is very different from the census population size of the real population. For sexual diploids, idealized populations will have genotype frequencies related to the allele frequencies according to Hardy-Weinberg equilibrium.
In 1908, G. H. Hardy and Wilhelm Weinberg modeled an idealised population to demonstrate that in the absence of selection, migration, random genetic drift, allele frequencies stay constant over time, and that in the presence of random mating, genotype frequencies are related to allele frequencies according to a binomial square principle called the Hardy-Weinberg law. [2]
A good example of usage idealised population model, in tracking natural population conditions, could be found in a research of Joe Roman and Stephen R. Palumbi (2003). Using genetic diversity data, they questioned: have populations of North Atlantic great whales recovered enough for commercial whaling? To calculate genetic diversity the authors multiply long term effective population size of the females by two, assuming sex ratio 1:1, and then multiply by mitochondrial genes substitution rate, per generation. Making several assumptions according to the sex ratio and number of juveniles, they were able to calculate that in contrast to historical records, modern whale populations are far from harvestable range. [3]
Idealised population models could not only provide us with information about present populations conditions but are useful in revealing natural history and population dynamics in the past as well. Using an idealised population model, Anders Eriksson and Andrea Manica (2012) tested the hypothesis of the archaic human admixture with modern humans. The authors compare genome sequences of two human populations, Neanderthals and chimpanzee. Eriksson and Manica created a stepping stone model under which Africa and Eurasia are represented as a string of equal size populations. They concluded that under the stepping stone model, in which Europeans can exchange genetic information with Asians and not with Africans, similarities between Neanderthal genome and Eurasian could be explained by ancient populations structure.[ clarification needed ] [4]
Usage of models also allows the performance of simulations, including computerized ones, to hypothesize evolutionary outcomes:
An allele, or allelomorph, is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule.
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.
Fitness is a quantitative representation of individual reproductive success. It is also equal to the average contribution to the gene pool of the next generation, made by the same individuals of the specified genotype or phenotype. Fitness can be defined either with respect to a genotype or to a phenotype in a given environment or time. The fitness of a genotype is manifested through its phenotype, which is also affected by the developmental environment. The fitness of a given phenotype can also be different in different selective environments.
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and population structure.
In population genetics, the Hardy–Weinberg principle, also known as the Hardy–Weinberg equilibrium, model, theorem, or law, states that allele and genotype frequencies in a population will remain constant from generation to generation in the absence of other evolutionary influences. These influences include genetic drift, mate choice, assortative mating, natural selection, sexual selection, mutation, gene flow, meiotic drive, genetic hitchhiking, population bottleneck, founder effect,inbreeding and outbreeding depression.
Allele frequency, or gene frequency, is the relative frequency of an allele 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. Microevolution is the change in allele frequencies that occurs over time within a population.
Quantitative genetics is the study of quantitative traits, which are phenotypes that vary continuously—such as height or mass—as opposed to phenotypes and gene-products that are discretely identifiable—such as eye-colour, or the presence of a particular biochemical.
This is a list of topics in evolutionary biology.
In population genetics, F-statistics describe the statistically expected level of heterozygosity in a population; more specifically the expected degree of (usually) a reduction in heterozygosity when compared to Hardy–Weinberg expectation.
Balancing selection refers to a number of selective processes by which multiple alleles are actively maintained in the gene pool of a population at frequencies larger than expected from genetic drift alone. Balancing selection is rare compared to purifying selection. It can occur by various mechanisms, in particular, when the heterozygotes for the alleles under consideration have a higher fitness than the homozygote. In this way genetic polymorphism is conserved.
The effective population size (Ne) is the size of an idealised population that would experience the same rate of genetic drift as the real population. The effective population size is normally smaller than the census population size N, partly because chance events prevent some individuals from breeding, and partly due to background selection and genetic hitchhiking. Idealised populations are based on unrealistic but convenient assumptions including random mating, rarity of natural selection such that each gene evolves independently, and constant population size.
In population genetics, the Wahlund effect is a reduction of heterozygosity in a population caused by subpopulation structure. Namely, if two or more subpopulations are in a Hardy–Weinberg equilibrium but have different allele frequencies, the overall heterozygosity is reduced compared to if the whole population was in equilibrium. The underlying causes of this population subdivision could be geographic barriers to gene flow followed by genetic drift in the subpopulations.
Genetic variation in populations can be analyzed and quantified by the frequency of alleles. Two fundamental calculations are central to population genetics: allele frequencies and genotype frequencies. Genotype frequency in a population is the number of individuals with a given genotype divided by the total number of individuals in the population. In population genetics, the genotype frequency is the frequency or proportion of genotypes in a population.
Genetic load is the difference between the fitness of an average genotype in a population and the fitness of some reference genotype, which may be either the best present in a population, or may be the theoretically optimal genotype. The average individual taken from a population with a low genetic load will generally, when grown in the same conditions, have more surviving offspring than the average individual from a population with a high genetic load. Genetic load can also be seen as reduced fitness at the population level compared to what the population would have if all individuals had the reference high-fitness genotype. High genetic load may put a population in danger of extinction.
Genetic hitchhiking, also called genetic draft or the hitchhiking effect, is when an allele changes frequency not because it itself is under natural selection, but because it is near another gene that is undergoing a selective sweep and that is on the same DNA chain. When one gene goes through a selective sweep, any other nearby polymorphisms that are in linkage disequilibrium will tend to change their allele frequencies too. Selective sweeps happen when newly appeared mutations are advantageous and increase in frequency. Neutral or even slightly deleterious alleles that happen to be close by on the chromosome 'hitchhike' along with the sweep. In contrast, effects on a neutral locus due to linkage disequilibrium with newly appeared deleterious mutations are called background selection. Both genetic hitchhiking and background selection are stochastic (random) evolutionary forces, like genetic drift.
Genetic equilibrium is the condition of an allele or genotype in a gene pool where the frequency does not change from generation to generation. Genetic equilibrium describes a theoretical state that is the basis for determining whether and in what ways populations may deviate from it. Hardy–Weinberg equilibrium is one theoretical framework for studying genetic equilibrium. It is commonly studied using models that take as their assumptions those of Hardy-Weinberg, meaning:
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 population genetics, a fixed allele is an allele that is the only variant that exists for that gene in a population. A fixed allele is homozygous for all members of the population. The process by which alleles become fixed is called fixation.
Additive disequilibrium (D) is a statistic that estimates the difference between observed genotypic frequencies and the genotypic frequencies that would be expected under Hardy–Weinberg equilibrium. At a biallelic locus with alleles 1 and 2, the additive disequilibrium exists according to the equations
Genetic assignment methods are a set of powerful statistical methods that are used to determine the relationship between individuals and populations. The general principle behind them is to use multilocus genotypes to assign reference populations as origins of the individuals.