title: Gene mapping study for constitutive skin color in an isolated Mongolian population.
abstract: 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.
authors.affiliation: Department of Dermatology Seoul National University College of Medicine, Seoul 110-799, Korea.
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Paik
authors.forename: Hyun-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Ho-Young
authors.initials: HY
authors.lastname: Son
authors.forename: Seungbok
authors.initials: S
authors.lastname: Lee
authors.forename: Sun-Wha
authors.initials: SW
authors.lastname: Im
authors.forename: Young Seok
authors.initials: YS
authors.lastname: Ju
authors.forename: Je Ho
authors.initials: JH
authors.lastname: Yeon
authors.forename: Seong Jin
authors.initials: SJ
authors.lastname: Jo
authors.forename: Hee Chul
authors.initials: HC
authors.lastname: Eun
authors.forename: Jeong-Sun
authors.initials: JS
authors.lastname: Seo
authors.forename: Oh Sang
authors.initials: OS
authors.lastname: Kwon
authors.forename: Jong-Il
authors.initials: JI
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D003116:Color; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008986:Mongolia; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012867:Skin / Q000378:metabolism; D012880:Skin Pigmentation; D055815:Young Adult