Gene mapping study for constitutive skin color in an isolated Mongolian population
Experimental & Molecular Medicine
;
: 241-249, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-194079
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Pele
/
Pigmentação da Pele
/
Mapeamento Cromossômico
/
Cor
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Estudo de Associação Genômica Ampla
/
Mongólia
Limite:
Adolescente
/
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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