Exp Mol Med.
2012 Mar;44(3):241-249. 10.3858/emm.2012.44.3.020.
Gene mapping study for constitutive skin color in an isolated Mongolian population
- Affiliations
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- 1Department of Dermatology, Seoul National University College of Medicine, Seoul 110-799, Korea. oskwon@snu.ac.kr
- 2Genomic Medicine Institute (GMI), Medical Research Center, Seoul National University, Seoul 110-799, Korea. jongil@snu.ac.kr
- 3Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 110-799, Korea.
- 4Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul 110-799, Korea.
- 5Laboratory of Cutaneous Aging and Hair Research, Clinical Research Institute, Seoul National University Hospital, Seoul 110-744, Korea.
- 6Institute of Dermatological Science, Seoul National University College of Medicine, Seoul 110-799, Korea.
- 7Psoma Therapeutics, Inc. Seoul 110-799, Korea.
- KMID: 1245267
- DOI: http://doi.org/10.3858/emm.2012.44.3.020
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 > or = 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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