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These genes have maintained an unusually high level of allelic diversity throughout time and throughout different populations. This means that for each MHC gene, many alleles (or gene variants) consistently exist within the population, and many individuals are heterozygous at MHC loci (meaning they possess two different alleles for a given gene ...
Among all those genes present in MHC, there are two types of genes coding for the proteins MHC class I molecules and MHC class II molecules that are directly involved in the antigen presentation. These genes are highly polymorphic, 19031 alleles of class I HLA, and 7183 of class II HLA are deposited for human in the IMGT database. [16]
Mutations in HLA genes may be linked to autoimmune diseases such as type I diabetes, and celiac disease. The HLA gene complex resides on a 3 Mbp stretch within chromosome 6, p-arm at 21.3. HLA genes are highly polymorphic, which means that they have many different alleles, allowing them to fine-tune the adaptive immune system.
As an example, one allele for the gene for hair color could instruct the body to produce much pigment, producing black hair, while a different allele of the same gene might give garbled instructions that fail to produce any pigment, giving white hair. Mutations are random changes in genes and can create new alleles. Mutations can also produce ...
A gene can acquire mutations in its sequence, leading to different variants, known as alleles, in the population. These alleles encode slightly different versions of a gene, which may cause different phenotypical traits. [4] Genes evolve due to natural selection or survival of the fittest and genetic drift of the alleles.
Sometimes these processes result in pseudogenization (death) of one copy of the gene, though sometimes this process results in two new genes with divergent function. [21] It is likely that human MHC class Ib loci (HLA-E, -F, and -G) as well as MHC class I pseudogenes arose from MHC class Ia loci (HLA-A, -B, and -C) in this birth-and-death process.
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, [13] classical genetics recognizes three alleles, I A, I B, and i, which determine compatibility of blood transfusions.
Over evolutionary time, gene families have expanded and contracted with genes within a family duplicating and diversifying into new genes, and genes being lost. An entire gene family may also be lost, or gained through de novo gene birth , by such extensive divergence such that a gene is considered part of a new family, or by horizontal gene ...