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- Publisher
- Oxford University Press
- Copyright
- Copyright © 2015 Oxford University Press
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- DOI
- 10.1093/hmg/6.11.1891
- Publisher site
- See Article on Publisher Site
Abstract
The association between MSHR coding region variation and hair colour in humans has been examined by genotyping 25 red haired and 62 non-red Caucasians, all of whom were 12 years of age and members of a twin pair study. Twelve amino acid substitutions were seen at 11 different sites, nine of these being newly described MSHR variants. The previously reported Val92Met allele shows no association with hair colour, but the three alleles Arg151Cys, Arg160Trp and Asp294His were associated with red hair and one Val60Leu variant was most frequent in fair/blonde and light brown hair colours. Variant MSHR genotypes are associated with lighter skin types and red hair (P < 0.001). However, comparison of the MSHR genotypes in dizygotic twin pairs discordant for red hair colour indicates that the MSHR gene cannot be solely responsible for the red hair phenotype, since five of 13 pairs tested had both haplotypes identical by state (with three of the five having both identical by descent). Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production. © 1997 Oxford University Press « Previous | Next Article » Table of Contents This Article Hum. Mol. Genet. (1997) 6 (11): 1891-1897. doi: 10.1093/hmg/6.11.1891 » Abstract Free Full Text (HTML) Free Full Text (PDF) Free Classifications Article Services Article metrics Alert me when cited Alert me if corrected Find similar articles Similar articles in Web of Science Similar articles in PubMed Add to my archive Download citation Request Permissions Citing Articles Load citing article information Citing articles via CrossRef Citing articles via Scopus Citing articles via Web of Science Citing articles via Google Scholar Google Scholar Articles by Box, N. F. Articles by Sturm, R. A. Search for related content PubMed PubMed citation Articles by Box, N. F. Articles by Wyeth, J. R. Articles by O'Gorman, L. E. Articles by Martin, N. G. 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Journal
Human Molecular Genetics – Oxford University Press
Published: Oct 1, 1997