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Cited by 340

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair

Box, N. F., Wyeth, J. R., O'Gorman, L. E., Martin, N. G., Sturm, R. A.·1997·Human Molecular Genetics
DOI 10.1093/hmg/6.11.1891
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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.

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Metadata

Authors
Box, N. F., Wyeth, J. R., O'Gorman, L. E., Martin, N. G., & Sturm, R. A.
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
1997-10-01
Volume
6
Issue
11
Pages
1891-1897
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
DOI
10.1093/hmg/6.11.1891
OpenAlex
W2116893702
Cited by
340
References
3
FWCI
3.99
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair. https://app.cochat.ai/papers/10.1093/hmg/6.11.1891
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Box, N. F., Wyeth, J. R., O'Gorman, L. E., Martin, N. G., & Sturm, R. A. (1997). Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair. Human Molecular Genetics. https://doi.org/10.1093/hmg/6.11.1891

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