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KMID : 0620920120440030241
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Experimental & Molecular Medicine
2012 Volume.44 No. 3 p.241 ~ p.249
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Gene mapping study for constitutive skin color in an isolated Mongolian population
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Paik Seung-Hwan
Kim Hyun-Jin
Son Ho-Young
Lee Seung-Bok
Im Sun-Wha
Ju Young-Seok
Yeon Je-Ho
Jo Seong-Jin
Eun Hee-Chul
Seo Jeong-Sun
Kwon Oh-Sang
Kim Jong-Il
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Abstract
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To elucidate the genes responsible for constitutive human skin color, we measured the extent of skin pigmentation in the buttock, representative of lifelong non-sun-exposed skin, and conducted a gene mapping study on skin color in an isolated Mongolian population composed of 344 individuals from 59 families who lived in Dashbalbar, Mongolia. The heritability of constitutive skin color was 0.82, indicating significant genetic association on this trait. Through the linkage analysis using 1,039 short tandem repeat (STR) microsatellite markers, we identified a novel genomic region regulating constitutive skin color on 11q24.2 with an logarithm of odds (LOD) score of 3.39. In addition, we also found other candidate regions on 17q23.2, 6q25.1, and 13q33.2 (LOD ≥ 2). Family-based association tests on these regions with suggestive linkage peaks revealed ten and two significant single nucleotide polymorphisms (SNPs) on the linkage regions of chromosome 11 and 17, respectively. We were able to discover four possible candidate genes that would be implicated to regulate human skin color: ETS1, UBASH3B, ASAM, and CLTC.
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KEYWORD
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genetic association studies, genetic linkage, microsatellite repeats, polymorphism, single nucleotide, quantitative trait, heritable, skin pigmentation
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