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Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Variants of the melanocortin 1 receptor (MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear. We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and an additional 99 unrelated redheads, for MC1R variants and have confirmed that red hair is usually inherited as a recessive characteristic with the R151C, R160W, D294H, R142H, 86insA and 537insC alleles at this locus. The V60L variant, which is common in the population may act as a partially penetrant recessive allele. These individuals plus 167 randomly ascertained Caucasians demonstrate that heterozygotes for two alleles, R151C and 537insC, have a significantly elevated risk of red hair. The shade of red hair frequently differs in heterozygotes from that in homozygotes/compound heterozygotes and there is also evidence for a heterozygote effect on beard hair colour, skin type and freckling. The data provide evidence for a dosage effect of MC1R variants on hair as well as skin colour.
2531-2537
Flanagan, Niamh
2d37f079-81df-4145-8833-5cfa215c215d
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Ray, Amanda
541e873e-6ff6-427a-8044-f6852b46de89
Philips, Sion
34d6bcbc-1c77-44d2-adf6-7a1d32457cb9
Todd, Carole
842f0b28-f5b7-4af2-8ad8-5f2b2aa5f395
Jackson, Ian J.
deb175b7-f77e-4b60-b8a9-472ef9cb6770
Birch-Machin, Mark A.
1bd387dd-9082-40bf-8ab3-f898bc68fc76
Rees, Jonathan L.
8a58a967-d239-4300-b363-ca471bf7047f
Flanagan, Niamh
2d37f079-81df-4145-8833-5cfa215c215d
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Ray, Amanda
541e873e-6ff6-427a-8044-f6852b46de89
Philips, Sion
34d6bcbc-1c77-44d2-adf6-7a1d32457cb9
Todd, Carole
842f0b28-f5b7-4af2-8ad8-5f2b2aa5f395
Jackson, Ian J.
deb175b7-f77e-4b60-b8a9-472ef9cb6770
Birch-Machin, Mark A.
1bd387dd-9082-40bf-8ab3-f898bc68fc76
Rees, Jonathan L.
8a58a967-d239-4300-b363-ca471bf7047f

Flanagan, Niamh, Healy, Eugene, Ray, Amanda, Philips, Sion, Todd, Carole, Jackson, Ian J., Birch-Machin, Mark A. and Rees, Jonathan L. (2000) Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Human Molecular Genetics, 9 (17), 2531-2537. (doi:10.1093/hmg/9.17.2531). (PMID:11030758)

Record type: Article

Abstract

Variants of the melanocortin 1 receptor (MC1R) gene are common in individuals with red hair and fair skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and compound heterozygotes for variants at this locus from the multiple alleles present in Caucasian populations is unclear. We have investigated 174 individuals from 11 large kindreds with a preponderance of red hair and an additional 99 unrelated redheads, for MC1R variants and have confirmed that red hair is usually inherited as a recessive characteristic with the R151C, R160W, D294H, R142H, 86insA and 537insC alleles at this locus. The V60L variant, which is common in the population may act as a partially penetrant recessive allele. These individuals plus 167 randomly ascertained Caucasians demonstrate that heterozygotes for two alleles, R151C and 537insC, have a significantly elevated risk of red hair. The shade of red hair frequently differs in heterozygotes from that in homozygotes/compound heterozygotes and there is also evidence for a heterozygote effect on beard hair colour, skin type and freckling. The data provide evidence for a dosage effect of MC1R variants on hair as well as skin colour.

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Published date: October 2000
Organisations: Clinical & Experimental Sciences

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Local EPrints ID: 334314
URI: https://eprints.soton.ac.uk/id/eprint/334314
PURE UUID: 120371e7-d74b-4c12-a984-f263c79c9720

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Date deposited: 13 Mar 2012 11:42
Last modified: 18 Jul 2017 06:11

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Author: Niamh Flanagan
Author: Eugene Healy
Author: Amanda Ray
Author: Sion Philips
Author: Carole Todd
Author: Ian J. Jackson
Author: Mark A. Birch-Machin
Author: Jonathan L. Rees

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