Skip Navigation



Human Molecular Genetics Advance Access published online on December 8, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm355
This Article
Right arrow Advance Access manuscript (PDF)
Right arrow Supplementary Data
Right arrow All Versions of this Article:
17/6/835    most recent
ddm355v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Fujimoto, A.
Right arrow Articles by Tokunaga, K.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Fujimoto, A.
Right arrow Articles by Tokunaga, K.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness

Akihiro Fujimoto1, Ryosuke Kimura2,*, Jun Ohashi1, Kazuya Omi1, Rika Yuliwulandari1,3, Lilian Batubara3, Mohammad Syamsul Mustofa4, Urai Samakkarn5, Wannapa Settheetham-Ishida6, Takafumi Ishida7, Yasuyuki Morishita8, Takuro Furusawa9, Minato Nakazawa10, Ryutaro Ohtsuka11 and Katsushi Tokunaga1

1 Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, Japan 2 Department of Forensic Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan 3 Pharmacology Department, Yarsi University, Central Jakarta, DKI Jakarta, Indonesia 4 Biology Department, Yarsi University, Central Jakarta, DKI Jakarta, Indonesia 5 Rawai Health Centre, Rawai, Muang, Phuket, Thailand 6 Department of Physiology, Faculty of Medicine, Khon Kaen University, Mittraphab Road, Khon Kaen, Thailand 7 Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Hongo, Tokyo, Japan 8 Department of Molecular Pathology, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, Japan 9 Division for International Relations, The University of Tokyo, Hongo, Tokyo, Japan 10 Socio-Environmental Health Sciences, Graduate School of Medicine, Gunma University, Maebashi-City, Gunma, Japan 11 National Institute for Environmental Studies, Onogawa, Tsukuba-City, Ibaraki, Japan

* Corresponding author: Ryosuke Kimura, Department of Forensic Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan, Tel: +81-463-93-1121 ext. 2630, Fax: +81-463-92-0284, E-mail: rkimura{at}is.icc.u-tokai.ac.jp

Received September 11, 2007; Revised November 13, 2007; Accepted December 2, 2007

Hair morphology is one of the most differentiated traits among human populations. However, genetic backgrounds of hair morphological differences among populations have not been clarified yet. In addition, little is known about the evolutionary forces that have acted on hair morphology. To identify hair morphology-determining genes, the levels of local genetic differentiation in 170 genes that are related to hair morphogenesis were evaluated by using data from the International HapMap project. Among highly differentiated genes, EDAR harboring an Asian-specific non-synonymous SNP (1540T/C, 370Val/Ala) was identified as a strong candidate. Association studies between genotypes and hair morphology revealed that the Asian-specific 1540C allele is associated with increase in hair thickness. Reporter gene assays suggested that 1540T/C affects the activity of the downstream transcription factor NF-{kappa}B. It was inferred from geographic distribution of 1540T/C and the long-range haplotype test that 1540C arose after the divergence of Asians from Europeans and its frequency has rapidly increased in East Asian populations. These findings lead us to conclude that EDAR is a major genetic determent of Asian hair thickness and the 1540C allele spread through Asian populations due to recent positive selection.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Mol Biol EvolHome page
R. Kimura, J. Ohashi, Y. Matsumura, M. Nakazawa, T. Inaoka, R. Ohtsuka, M. Osawa, and K. Tokunaga
Gene Flow and Natural Selection in Oceanic Human Populations Inferred from Genome-Wide SNP Typing
Mol. Biol. Evol., August 1, 2008; 25(8): 1750 - 1761.
[Abstract] [Full Text] [PDF]

Home page
 Journal Watch DermatologyHome page
The Genetics of Hair Morphology
Journal Watch Dermatology, March 28, 2008; 2008(328): 2 - 2.
[Full Text]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.