The distinctive geographic patterns of common pigmentation variants at the OCA2 gene

• NCJ Number: 302566
• Journal: Scientific Reports Volume: 10 Issue: 1 Dated: 2020
• Author(s): Kenneth K. Kidd; Andrew J. Pakstis; Michael P. Donnelly; Ozlem Bulbul; Lofti Cherni; Cemal Gurkan; Longli Kang; Hui Li; Libing Yun; Peristera Paschou; Kelly A. Meiklejohn; Eva Haigh; William C. Speed
• Date Published: 2020
• Grant Number(s): 2018-75-CX-0041; 2015-DN-BX-K023; 2016-DN-BX-0162; 2014-DN-BX-K030
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical)
• Award: Continued Development of FROG-kb: A Forensic Resource/Reference on Genetics knowledge base; Powerful Forensic Markers Optimized for Massively Parallel Sequencing; Enhancing and Sustaining the ALFRED-FROG-KB Forensic Resource; Better Forensic Markers: Microhaplotypes and Ancestry SNPs

Annotation

This study examined population genetic variation in and near the Oculocutaneous Albinism type 2 (OCA2) gene from a worldwide perspective.

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. 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. (publisher abstract modified)