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Gene mapping study for constitutive skin color in an isolated Mongolian population
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  • Gene mapping study for constitutive skin color in an isolated Mongolian population
  • Gene mapping study for constitutive skin color in an isolated Mongolian population
저자명
Paik. Seung Hwan,Kim. Hyun-Jin,Son. Ho-Young,Lee. Seungbok,Im. Sun-Wha,Ju. Young Seok,Yeon. Je Ho,Jo. Seong Jin,Eun. Hee Chul,Se
간행물명
Experimental & molecular medicine : EMM
권/호정보
2012년|44권 3호|pp.241-249 (9 pages)
발행정보
생화학분자생물학회
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정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

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 ($LOD{geq}2$). 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.