Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia
In Russian populations, polymorphism of two pigmentation system genes, OCA2 (loci 305, 355, and 419, tested in Russians, Buryats, Chukchi, Koryaks, and Evens) and ASIP (locus 8818, tested in Russians and Buryats) was examined. Pairwise comparisons of the F ST distances between the populations showed that only the populations from Northeast Asia (Chukchi, Koryaks, and Evens) were statistically significantly different from all other populations, at least relative to one of the OCA2 locus. In Russians from Pskov oblast and Novgorod oblast, increased frequency (up to 6%) of the OCA2 allele 419A was revealed. In earlier studies, as association of this allele with green eye color was demonstrated. The data obtained in terms of their application for ethnic population genetics.
- Parra, E.J., Marcini, A., Akey, J., et al., Estimating African American Admixture Proportions by Use of Population-Specific Alleles, Am. J. Hum. Genet., 1998, vol. 63, pp. 1839–1851. CrossRef
- Shriver, M.D., Parra, E.J., Dios, S., et al., Skin Pigmentation, Biogeographical Ancestry and Admixture Mapping, Hum. Genet., 2003, vol. 112, pp. 387–399.
- Bonilla, C., Shriver, M.D., Parra, E.J., et al., Ancestral Proportions and Their Association with Skin Pigmentation and Bone Mineral Density in Puerto Rican Women from New York City, Hum. Genet., 2004, vol. 115, pp. 57–68. CrossRef
- Frudakis, T., Thomas, M., Gaskin, Z., et al., Sequences Associated with Human Iris Pigmentation, Genetics, 2003, vol. 165, pp. 2071–2083.
- Norton, H.E., Kittles, R.A., Parra, E., et al., Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians, Mol. Biol. Evol., 2007, vol. 24, pp. 710–722. CrossRef
- Duffy, D.L., Montgomery, G.W., Chen, W., et al., A Three-SNP Haplotype in the First Intron of OCA2 Explains Most Human Eye Color Variation, Am. J. Hum. Genet., 2007, vol. 80, pp. 241–252. CrossRef
- Lee, S.T., Nicholls, R.D., Bundey, S., et al., Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism, N. Engl. J. Med., 1994, vol. 330, pp. 529–534. CrossRef
- Rebbeck, T.R., Kanetsky, P.A., Walker, A.H., et al., P Gene as an Inherited Biomarker of Human Eye Color, Cancer Epidemiol. Biomarkers Prev., 2002, vol. 11, pp. 782–784.
- Kanetsky, P.A., Swoyer, J., Panossian, S., et al., A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human Pigmentation, Am. J. Hum. Genet., 2002, vol. 70, pp. 770–775. CrossRef
- Bonilla, C., Boxill, L., Donald, S., et al., The 8818G Allele of the Agouti Signaling Protein (ASIP) Gene Is Ancestral and Is Associated with Darker Skin Color in African Americans, Hum. Genet., 2005, vol. 116, pp. 402–406. CrossRef
- Excoffier, L., Laval, G., and Schneider, S., Arlequin Ver. 3.0: An Integrated Software Package for Population Genetics Data Analysis, Evol. Bioinform. Online, 2005, vol. 1, pp. 47–50.
- Zaykin, D.V. and Pudovkin, A.J., Two Programs to Estimate Significance of Chi-Square Values Using Pseudo-Probability Test, J. Hered., 1993, vol. 84, p. 152.
- Alekseeva, T.I., Etnogenez vostochnykh slavyan (Ethnogenesis of Eastern Slavs), Moscow: Mosk. Gos. Univ., 1973.
- Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia
Russian Journal of Genetics
Volume 45, Issue 3 , pp 351-355
- Cover Date
- Print ISSN
- Online ISSN
- SP MAIK Nauka/Interperiodica
- Additional Links