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.
Highlights
The human skin color is one of the most perceptible phenotypic variations among humans and is known to be determined primarily by the amount and type of melanin which is synthesized within melanosomes in melanocytes (Thong et al, 2003)
We examined the melanin index (MI) in the buttock, which was representative of unexposed skin
On the linkage region of chromosome 11, we identified ten significant single nucleotide polymorphisms (SNPs) reached at P value < 1.0 × 10-6, and six out of those ten significant SNPs were located within 3 candidate genes such as ETS1 (v-ets erythroblastosis virus E26 oncogene homolog 1), UBASH3B, and ASAM (Adipocyte‐ specific adhesion molecule)
Summary
The human skin color is one of the most perceptible phenotypic variations among humans and is known to be determined primarily by the amount and type of melanin which is synthesized within melanosomes in melanocytes (Thong et al, 2003). There is a high degree of variation in human skin color that ranges from dark brown to nearly colorless (Sturm, 2009). Eleven genes have been identified to be related to pigmentation: TYR (11q14.3), TYRP1 (9P23), OCA2 (15q12-q13.1), SLC45A2 (5p13.2), SLC24A5 (15q21.1), MC1R (16q24.3), ASIP (20.q11.22), KITLG (12q21.32), SLC24A4 (14q32.12), IRF4 (6p25.3), and TPCN2 (11q13.3) By-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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