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What is the evidence that nucleotide sequence variation within the antigen recognition site of the human MHC gene has been driven by natural selection?

User Acheo
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Final answer:

The antigen recognition site's nucleotide sequence variation within the human MHC gene suggests that natural selection has preserved a high level of polymorphism to enable recognition of various pathogens, as evidenced by SNP diversity and MHC's impact on immune response and organ transplant compatibility.

Step-by-step explanation:

Evidence suggesting that nucleotide sequence variation within the antigen recognition site of the human MHC gene has been driven by natural selection includes the high level of polymorphism found in the genes encoding MHC molecules. These genes are more variable than can be accounted for by neutral mutations alone, suggesting that positive selection has acted to maintain diversity within the MHC genomic region. This diversity is critical for the functioning of the immune system because it allows for the recognition and binding of a wide array of pathogenic antigens by MHC molecules.

The occurrence of single nucleotide polymorphisms (SNPs) within these genes can result in different alleles, some of which may provide a survival advantage by allowing for the presentation of a broader spectrum of pathogenic molecules to T cells, thus enhancing immune response.

Additionally, compatibility issues in organ transplantation, which are heavily influenced by MHC allele compatibility, underscore the essential role of MHC genetic variety in immune system function. The difficulty in finding an exact match for organ donation is a testament to the extreme variability of the MHC locus, further implying a history of selection for diverse MHC genotypes.

User HamZa
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