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Evidence for variable selective pressures at MC1R

Evidence for variable selective pressures at MC1R
Evidence for variable selective pressures at MC1R
It is widely assumed that genes that influence variation in skin and hair pigmentation are under selection. To date,
the melanocortin 1 receptor (MC1R) is the only gene identified that explains substantial phenotypic variance in
human pigmentation. Here we investigate MC1R polymorphism in several populations, for evidence of selection.
We conclude that MC1R is under strong functional constraint in Africa, where any diversion from eumelanin production (black pigmentation) appears to be evolutionarily deleterious. Although many of the MC1R amino acid variants observed in non-African populations do affect MC1R function and contribute to high levels of MC1R diversity in Europeans, we found no evidence, in either the magnitude or the patterns of diversity, for its enhancement by selection; rather, our analyses show that levels of MC1R polymorphism simply reflect neutral expectations under
relaxation of strong functional constraint outside Africa.
0002-9297
1351-1361
Harding, Rosalind M.
247de1bf-e5cc-4e9d-976c-6b8f5c2b018e
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Ray, Amanda J.
6fde54e2-6ced-4602-996b-3dbbe20f10eb
Ellis, Nichola S.
0036915d-6d58-4084-89d6-c47619c14742
Flanagan, Niamh
2d37f079-81df-4145-8833-5cfa215c215d
Todd, Carol
65d22df4-9798-4c3f-b9ac-2f4621da7940
Dixon, Craig
0eebe366-8015-4f4c-a693-397974f65032
Sajantila, Antti
b47cd963-6d52-4e62-a23e-9d65d2569b54
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
Harding, Rosalind M.
247de1bf-e5cc-4e9d-976c-6b8f5c2b018e
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Ray, Amanda J.
6fde54e2-6ced-4602-996b-3dbbe20f10eb
Ellis, Nichola S.
0036915d-6d58-4084-89d6-c47619c14742
Flanagan, Niamh
2d37f079-81df-4145-8833-5cfa215c215d
Todd, Carol
65d22df4-9798-4c3f-b9ac-2f4621da7940
Dixon, Craig
0eebe366-8015-4f4c-a693-397974f65032
Sajantila, Antti
b47cd963-6d52-4e62-a23e-9d65d2569b54
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

Harding, Rosalind M., Healy, Eugene, Ray, Amanda J., Ellis, Nichola S., Flanagan, Niamh, Todd, Carol, Dixon, Craig, Sajantila, Antti, Jackson, Ian J., Birch-Machin, Mark A. and Rees, Jonathan L. (2000) Evidence for variable selective pressures at MC1R. The American Journal of Human Genetics, 66 (4), 1351-1361.

Record type: Article

Abstract

It is widely assumed that genes that influence variation in skin and hair pigmentation are under selection. To date,
the melanocortin 1 receptor (MC1R) is the only gene identified that explains substantial phenotypic variance in
human pigmentation. Here we investigate MC1R polymorphism in several populations, for evidence of selection.
We conclude that MC1R is under strong functional constraint in Africa, where any diversion from eumelanin production (black pigmentation) appears to be evolutionarily deleterious. Although many of the MC1R amino acid variants observed in non-African populations do affect MC1R function and contribute to high levels of MC1R diversity in Europeans, we found no evidence, in either the magnitude or the patterns of diversity, for its enhancement by selection; rather, our analyses show that levels of MC1R polymorphism simply reflect neutral expectations under
relaxation of strong functional constraint outside Africa.

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More information

Published date: April 2000
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 334298
URI: https://eprints.soton.ac.uk/id/eprint/334298
ISSN: 0002-9297
PURE UUID: 37df3f69-2fea-4e3d-82c9-5d4cdc33521b

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Date deposited: 13 Mar 2012 11:32
Last modified: 18 Jul 2017 06:12

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Contributors

Author: Rosalind M. Harding
Author: Eugene Healy
Author: Amanda J. Ray
Author: Nichola S. Ellis
Author: Niamh Flanagan
Author: Carol Todd
Author: Craig Dixon
Author: Antti Sajantila
Author: Ian J. Jackson
Author: Mark A. Birch-Machin
Author: Jonathan L. Rees

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