Allele

An allele (/əˈliːl/) is a variant form of a given gene. Sometimes, different alleles can result in different observable phenotypic traits, such as different pigmentation. A notable example of this trait of color variation is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of 'pure line' traits which could be used as a control for future experiments. However, most genetic variations result in little or no observable variation. Most multicellular organisms have two sets of chromosomes; that is, they are diploid. In this case, the chromosomes can be paired: each pair is made up of two chromosomes of the same type, known as homologous chromosomes. If both alleles at a gene (or locus) on the homologous chromosomes are the same, they and the organism are homozygous with respect to that gene (or locus). If the alleles are different, they and the organism are heterozygous with respect to that gene. The word 'allele' is a short form of allelomorph ('other form', a word coined by British geneticists William Bateson and Edith Rebecca Saunders), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. It derives from the Greek prefix ἀλληλο-, allelo-, meaning 'mutual', 'reciprocal', or 'each other', which itself is related to the Greek adjective ἄλλος, allos (cognate with Latin alius), meaning 'other'. In many cases, genotypic interactions between the two alleles at a locus can be described as dominant or recessive, according to which of the two homozygous phenotypes the heterozygote most resembles. Where the heterozygote is indistinguishable from one of the homozygotes, the allele expressed is the one that leads to the 'dominant' phenotype, and the other allele is said to be 'recessive'. The degree and pattern of dominance varies among loci. This type of interaction was first formally described by Gregor Mendel. However, many traits defy this simple categorization and the phenotypes are modeled by co-dominance and polygenic inheritance. The term 'wild type' allele is sometimes used to describe an allele that is thought to contribute to the typical phenotypic character as seen in 'wild' populations of organisms, such as fruit flies (Drosophila melanogaster). Such a 'wild type' allele was historically regarded as leading to a dominant (overpowering - always expressed), common, and normal phenotype, in contrast to 'mutant' alleles that lead to recessive, rare, and frequently deleterious phenotypes. It was formerly thought that most individuals were homozygous for the 'wild type' allele at most gene loci, and that any alternative 'mutant' allele was found in homozygous form in a small minority of 'affected' individuals, often as genetic diseases, and more frequently in heterozygous form in 'carriers' for the mutant allele. It is now appreciated that most or all gene loci are highly polymorphic, with multiple alleles, whose frequencies vary from population to population, and that a great deal of genetic variation is hidden in the form of alleles that do not produce obvious phenotypic differences. A population or species of organisms typically includes multiple alleles at each locus among various individuals. Allelic variation at a locus is measurable as the number of alleles (polymorphism) present, or the proportion of heterozygotes in the population. A null allele is a gene variant that lacks the gene's normal function because it either is not expressed, or the expressed protein is inactive. For example, at the gene locus for the ABO blood type carbohydrate antigens in humans, classical genetics recognizes three alleles, IA, IB, and i, which determine compatibility of blood transfusions. Any individual has one of six possible genotypes (IAIA, IAi, IBIB, IBi, IAIB, and ii) which produce one of four possible phenotypes: 'Type A' (produced by IAIA homozygous and IAi heterozygous genotypes), 'Type B' (produced by IBIB homozygous and IBi heterozygous genotypes), 'Type AB' produced by IAIB heterozygous genotype, and 'Type O' produced by ii homozygous genotype. (It is now known that each of the A, B, and O alleles is actually a class of multiple alleles with different DNA sequences that produce proteins with identical properties: more than 70 alleles are known at the ABO locus. Hence an individual with 'Type A' blood may be an AO heterozygote, an AA homozygote, or an AA heterozygote with two different 'A' alleles.) The frequency of alleles in a diploid population can be used to predict the frequencies of the corresponding genotypes (see Hardy-Weinberg principle). For a simple model, with two alleles;