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Gene mapping study for constitutive skin color in an isolated Mongolian population

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...

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Autores principales: 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, Seo, Jeong-Sun, Kwon, Oh Sang, Kim, Jong-Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Biochemistry and Molecular Biology 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317488/
https://www.ncbi.nlm.nih.gov/pubmed/22198297
http://dx.doi.org/10.3858/emm.2012.44.3.020
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author 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
Seo, Jeong-Sun
Kwon, Oh Sang
Kim, Jong-Il
author_facet 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
Seo, Jeong-Sun
Kwon, Oh Sang
Kim, Jong-Il
author_sort Paik, Seung Hwan
collection PubMed
description 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.
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spelling pubmed-33174882012-04-04 Gene mapping study for constitutive skin color in an isolated Mongolian population 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 Seo, Jeong-Sun Kwon, Oh Sang Kim, Jong-Il Exp Mol Med Original Article 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. Korean Society for Biochemistry and Molecular Biology 2012-03-31 2011-12-26 /pmc/articles/PMC3317488/ /pubmed/22198297 http://dx.doi.org/10.3858/emm.2012.44.3.020 Text en Copyright © 2012 by the Korean Society for Biochemistry and Molecular Biology http://creativecommons.org/licenses/by-nc/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
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
Seo, Jeong-Sun
Kwon, Oh Sang
Kim, Jong-Il
Gene mapping study for constitutive skin color in an isolated Mongolian population
title Gene mapping study for constitutive skin color in an isolated Mongolian population
title_full Gene mapping study for constitutive skin color in an isolated Mongolian population
title_fullStr Gene mapping study for constitutive skin color in an isolated Mongolian population
title_full_unstemmed Gene mapping study for constitutive skin color in an isolated Mongolian population
title_short Gene mapping study for constitutive skin color in an isolated Mongolian population
title_sort gene mapping study for constitutive skin color in an isolated mongolian population
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317488/
https://www.ncbi.nlm.nih.gov/pubmed/22198297
http://dx.doi.org/10.3858/emm.2012.44.3.020
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