A global view of the OCA2-HERC2 region and pigmentation

• DOI: 10.1007/s00439-011-1110-x
• Publication Date: 2011-11-07T11:52:49Z
• Authors: Michael P. Donnelly; Peristera Paschou; Elena Grigorenko; David Gurwitz; Csaba Barta; Ru-Band Lu; Olga V. Zhukova; Jong-Jin Kim; Marcello Siniscalco; Maria New; Hui Li; Sylvester L. B. K...; Vangelis G. Manol...; William C. Speed; Andrew J. Pakstis; Judith R. Kidd; Kenneth K. Kidd
• Keywords: Oculocutaneous albinism; Founder effect

Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms and around have also been associated with normal pigment variation. In Europeans, three haplotypes region shown to be eye pigmentation a missense SNP (rs1800407) has green/hazel eyes (Branicki et al. Ann Hum Genet 73:160-170, 2009). addition, mutation (rs1800414) is candidate light skin East Asia (Yuasa Biochem 45:535-542, 2007; Anno Int J Biol Sci 4, 2008). We genotyped 3,432 individuals from 72 populations 21 SNPs OCA2-HERC2 including those previously or pigmentation. report that blue-eye alleles at all were found high frequencies Europe; however, one restricted Europe surrounding regions, while other two moderate throughout world. observed derived allele of rs1800414 essentially limited where it frequencies. Long-range haplotype tests provide evidence selection haplotyped systems not allele. saw Asia. Our data suggest strongest marker blue globally add further inferential an Asian