A global view of the OCA2-HERC2 region and pigmentation

Michael P. Donnelly, Peristera Paschou, Elena Grigorenko, David Gurwitz, C. Barta, Ru Band Lu, Olga V. Zhukova, Jong Jin Kim, Marcello Siniscalco, Maria New, Hui Li, Sylvester L B Kajuna, Vangelis G. Manolopoulos, William C. Speed, Andrew J. Pakstis, Judith R. Kidd, Kenneth K. Kidd

Research output: Contribution to journalArticle

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Abstract

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

Original languageEnglish
Pages (from-to)683-696
Number of pages14
JournalHuman Genetics
Volume131
Issue number5
DOIs
Publication statusPublished - May 2012

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Pigmentation
Alleles
Skin Pigmentation
Haplotypes
Far East
Single Nucleotide Polymorphism
Viverridae
Missense Mutation
Oculocutaneous albinism type 2
Light
Mutation
Population
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Donnelly, M. P., Paschou, P., Grigorenko, E., Gurwitz, D., Barta, C., Lu, R. B., ... Kidd, K. K. (2012). A global view of the OCA2-HERC2 region and pigmentation. Human Genetics, 131(5), 683-696. https://doi.org/10.1007/s00439-011-1110-x

A global view of the OCA2-HERC2 region and pigmentation. / Donnelly, Michael P.; Paschou, Peristera; Grigorenko, Elena; Gurwitz, David; Barta, C.; Lu, Ru Band; Zhukova, Olga V.; Kim, Jong Jin; Siniscalco, Marcello; New, Maria; Li, Hui; Kajuna, Sylvester L B; Manolopoulos, Vangelis G.; Speed, William C.; Pakstis, Andrew J.; Kidd, Judith R.; Kidd, Kenneth K.

In: Human Genetics, Vol. 131, No. 5, 05.2012, p. 683-696.

Research output: Contribution to journalArticle

Donnelly, MP, Paschou, P, Grigorenko, E, Gurwitz, D, Barta, C, Lu, RB, Zhukova, OV, Kim, JJ, Siniscalco, M, New, M, Li, H, Kajuna, SLB, Manolopoulos, VG, Speed, WC, Pakstis, AJ, Kidd, JR & Kidd, KK 2012, 'A global view of the OCA2-HERC2 region and pigmentation', Human Genetics, vol. 131, no. 5, pp. 683-696. https://doi.org/10.1007/s00439-011-1110-x
Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB et al. A global view of the OCA2-HERC2 region and pigmentation. Human Genetics. 2012 May;131(5):683-696. https://doi.org/10.1007/s00439-011-1110-x
Donnelly, Michael P. ; Paschou, Peristera ; Grigorenko, Elena ; Gurwitz, David ; Barta, C. ; Lu, Ru Band ; Zhukova, Olga V. ; Kim, Jong Jin ; Siniscalco, Marcello ; New, Maria ; Li, Hui ; Kajuna, Sylvester L B ; Manolopoulos, Vangelis G. ; Speed, William C. ; Pakstis, Andrew J. ; Kidd, Judith R. ; Kidd, Kenneth K. / A global view of the OCA2-HERC2 region and pigmentation. In: Human Genetics. 2012 ; Vol. 131, No. 5. pp. 683-696.
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