Abstract
Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. The diverse geographic patterns for variant frequencies at OCA2 have been evident but have not been systematically investigated, especially outside of Europe. Here we examine population genetic variation in and near the OCA2 gene from a worldwide perspective. The very different patterns of genetic variation found across world regions suggest strong selection effects may have been at work over time. For example, analyses involving the variants that affect pigmentation of the iris argue that the derived allele of the rs1800407 single nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previously demonstrated positive selection in Europe for the enhancer variant responsible for light eye color. More study is needed on the relationships of the genetic variation at OCA2 to variation in pigmentation in areas beyond Europe.
Highlights
Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans
Oculocutaneous Albinism type 2 (OCA2) is a gene of interest for several reasons, not the least of which is its role in oculocutaneous albinism with about 30% of worldwide cases accounted for by 154 mutations in the OCA2 gene[1]
Two amino acid substitutions in the coding sequence were shown by Sviderskaya et al.[2] to be associated with decreased expression of the OCA2 protein but not full ocular albinism
Summary
Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. Three of the OCA2 missense SNPs (rs1800414, rs74653330, rs1800407) have been studied in conjunction with pigmentation phenotypes, primarily in European and East Asian populations where the variants are most common.
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