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Melanocortin 1 receptor variants in an Irish population

Melanocortin 1 receptor variants in an Irish population
Melanocortin 1 receptor variants in an Irish population
The identification of an association between variants in the human melanocortin 1 receptor (MC1R) gene and red hair and fair skin, as well as the relation between variants of this gene and coat color in animals, suggests that the MC1R is an integral control point in the normal pigmentation phenotype. In order to further define the contribution of MC1R variants to pigmentation in a normal population, we have looked for alterations in this gene in series of individuals from a general Irish population, in whom there is a preponderance of individuals with fair skin type. Seventy-five per cent contained a variant in the MC1R gene, with 30% containing two variants. The Arg151Cys, Arg160Trp, and Asp294His variants were significantly associated with red hair (p = 0.0015, p < 0.001, and p < 0.005, respectively). Importantly, no individuals harboring two of these three variants did not have red hair, although some red-haired individuals only showed one alteration. The same three variants were also over-represented in individuals with light skin type as assessed using a modified Fitzpatrick scale. Despite these associations many subjects with dark hair/darker skin type harbored MC1R variants, but there was no evidence of any particular association of variants with the darker phenotype. The Asp294His variant was similarly associated with red hair in a Dutch population, but was infrequent in red-headed subjects from Sweden. The Asp294His variant was also significantly associated with nonmelanoma skin cancer in a U.K. population. The results show that the Arg151Cys, Arg160Trp, and Asp294His variants are of key significance in determining the pigmentary phenotype and response to ultraviolet radiation, and suggest that in many cases the red-haired component and in some cases fair skin type are inherited as a Mendelian recessive.

genetics, hair color, pigmentation, skin type
0022-202X
101-104
Smith, Rachel
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Healy, Eugene
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Siddiqui, Shazia
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Flanagan, Niamh
2d37f079-81df-4145-8833-5cfa215c215d
Steijlen, Peter M.
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Rosdahl, Inger
a1e80763-f898-42b1-8137-5e2d35a56977
Jacques, Jon P.
b22db062-12b6-426b-bc03-7aedbb2863c5
Rogers, Sarah
e8cf5467-a99e-4551-96a3-f3d21a84e0f0
Turner, Richard
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Jackson, Ian J.
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Birch-Machin, Mark A.
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Rees, Jonathan L.
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Smith, Rachel
5ce45fdb-e2f3-4fb0-b9df-1df72661ddfa
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Siddiqui, Shazia
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Flanagan, Niamh
2d37f079-81df-4145-8833-5cfa215c215d
Steijlen, Peter M.
718defed-537f-458d-a6a6-4bb49a8a6381
Rosdahl, Inger
a1e80763-f898-42b1-8137-5e2d35a56977
Jacques, Jon P.
b22db062-12b6-426b-bc03-7aedbb2863c5
Rogers, Sarah
e8cf5467-a99e-4551-96a3-f3d21a84e0f0
Turner, Richard
1e68923d-50af-4394-9d84-d1f504a9897f
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

Smith, Rachel, Healy, Eugene, Siddiqui, Shazia, Flanagan, Niamh, Steijlen, Peter M., Rosdahl, Inger, Jacques, Jon P., Rogers, Sarah, Turner, Richard, Jackson, Ian J., Birch-Machin, Mark A. and Rees, Jonathan L. (1998) Melanocortin 1 receptor variants in an Irish population Journal of Investigative Dermatology, 111, (1), pp. 101-104. (doi:10.1046/j.1523-1747.1998.00252.x). (PMID:9665397).

Record type: Article

Abstract

The identification of an association between variants in the human melanocortin 1 receptor (MC1R) gene and red hair and fair skin, as well as the relation between variants of this gene and coat color in animals, suggests that the MC1R is an integral control point in the normal pigmentation phenotype. In order to further define the contribution of MC1R variants to pigmentation in a normal population, we have looked for alterations in this gene in series of individuals from a general Irish population, in whom there is a preponderance of individuals with fair skin type. Seventy-five per cent contained a variant in the MC1R gene, with 30% containing two variants. The Arg151Cys, Arg160Trp, and Asp294His variants were significantly associated with red hair (p = 0.0015, p < 0.001, and p < 0.005, respectively). Importantly, no individuals harboring two of these three variants did not have red hair, although some red-haired individuals only showed one alteration. The same three variants were also over-represented in individuals with light skin type as assessed using a modified Fitzpatrick scale. Despite these associations many subjects with dark hair/darker skin type harbored MC1R variants, but there was no evidence of any particular association of variants with the darker phenotype. The Asp294His variant was similarly associated with red hair in a Dutch population, but was infrequent in red-headed subjects from Sweden. The Asp294His variant was also significantly associated with nonmelanoma skin cancer in a U.K. population. The results show that the Arg151Cys, Arg160Trp, and Asp294His variants are of key significance in determining the pigmentary phenotype and response to ultraviolet radiation, and suggest that in many cases the red-haired component and in some cases fair skin type are inherited as a Mendelian recessive.

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More information

Published date: July 1998
Keywords: genetics, hair color, pigmentation, skin type
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 334246
URI: https://eprints.soton.ac.uk/id/eprint/334246
ISSN: 0022-202X
PURE UUID: 0f357c63-4657-4757-a058-e89d10b144b6

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Date deposited: 13 Mar 2012 12:38
Last modified: 18 Jul 2017 06:12

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Contributors

Author: Rachel Smith
Author: Eugene Healy
Author: Shazia Siddiqui
Author: Niamh Flanagan
Author: Peter M. Steijlen
Author: Inger Rosdahl
Author: Jon P. Jacques
Author: Sarah Rogers
Author: Richard Turner
Author: Ian J. Jackson
Author: Mark A. Birch-Machin
Author: Jonathan L. Rees

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