Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals
Although the genetic basis of color variation has been extensively studied in humans and domestic animals, the genetic polymorphisms responsible for different color morphs remain to be elucidated in many wild vertebrate species. For example, hypopigmentation has been observed in numerous marine mamm...
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Online Access: | http://nora.nerc.ac.uk/id/eprint/514083/ https://nora.nerc.ac.uk/id/eprint/514083/1/Peters.pdf https://doi.org/10.1002/ece3.2290 |
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ftnerc:oai:nora.nerc.ac.uk:514083 2023-05-15T13:49:33+02:00 Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals Peters, Lucy Humble, Emily Kröcker, Nicole Fuchs, Birgit Forcada, Jaume Hoffman, Joseph I. 2016-08 text http://nora.nerc.ac.uk/id/eprint/514083/ https://nora.nerc.ac.uk/id/eprint/514083/1/Peters.pdf https://doi.org/10.1002/ece3.2290 en eng Wiley https://nora.nerc.ac.uk/id/eprint/514083/1/Peters.pdf Peters, Lucy; Humble, Emily; Kröcker, Nicole; Fuchs, Birgit; Forcada, Jaume orcid:0000-0002-2115-0150 Hoffman, Joseph I. 2016 Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecology and Evolution, 6 (16). 5705-5717. https://doi.org/10.1002/ece3.2290 <https://doi.org/10.1002/ece3.2290> cc_by CC-BY Publication - Article PeerReviewed 2016 ftnerc https://doi.org/10.1002/ece3.2290 2023-02-04T19:43:18Z Although the genetic basis of color variation has been extensively studied in humans and domestic animals, the genetic polymorphisms responsible for different color morphs remain to be elucidated in many wild vertebrate species. For example, hypopigmentation has been observed in numerous marine mammal species but the underlying mutations have not been identified. A particularly compelling candidate gene for explaining color polymorphism is the melanocortin 1 receptor (MC1R), which plays a key role in the regulation of pigment production. We therefore used Antarctic fur seals (Arctocephalus gazella) as a highly tractable marine mammal system with which to test for an association between nucleotide variation at the MC1R and melanin-based coat color phenotypes. By sequencing 70 wild-type individuals with dark-colored coats and 26 hypopigmented individuals with cream-colored coats, we identified a nonsynonymous mutation that results in the substitution of serine with phenylalanine at an evolutionarily highly conserved structural domain. All of the hypopigmented individuals were homozygous for the allele coding for phenylalanine, consistent with a recessive loss-of-function allele. In order to test for cryptic population structure, which can generate artefactual associations, and to evaluate whether homozygosity at the MC1R could be indicative of low genome-wide heterozygosity, we also genotyped all of the individuals at 50 polymorphic microsatellite loci. We were unable to detect any population structure and also found that wild-type and hypopigmented individuals did not differ significantly in their standardized multilocus heterozygosity. Such a lack of association implies that hypopigmented individuals are unlikely to suffer disproportionately from inbreeding depression, and hence, we have no reason to believe that they are at a selective disadvantage in the wider population. Article in Journal/Newspaper Antarc* Antarctic Antarctic Fur Seals Arctocephalus gazella Natural Environment Research Council: NERC Open Research Archive Antarctic Ecology and Evolution 6 16 5705 5717 |
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Open Polar |
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Natural Environment Research Council: NERC Open Research Archive |
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ftnerc |
language |
English |
description |
Although the genetic basis of color variation has been extensively studied in humans and domestic animals, the genetic polymorphisms responsible for different color morphs remain to be elucidated in many wild vertebrate species. For example, hypopigmentation has been observed in numerous marine mammal species but the underlying mutations have not been identified. A particularly compelling candidate gene for explaining color polymorphism is the melanocortin 1 receptor (MC1R), which plays a key role in the regulation of pigment production. We therefore used Antarctic fur seals (Arctocephalus gazella) as a highly tractable marine mammal system with which to test for an association between nucleotide variation at the MC1R and melanin-based coat color phenotypes. By sequencing 70 wild-type individuals with dark-colored coats and 26 hypopigmented individuals with cream-colored coats, we identified a nonsynonymous mutation that results in the substitution of serine with phenylalanine at an evolutionarily highly conserved structural domain. All of the hypopigmented individuals were homozygous for the allele coding for phenylalanine, consistent with a recessive loss-of-function allele. In order to test for cryptic population structure, which can generate artefactual associations, and to evaluate whether homozygosity at the MC1R could be indicative of low genome-wide heterozygosity, we also genotyped all of the individuals at 50 polymorphic microsatellite loci. We were unable to detect any population structure and also found that wild-type and hypopigmented individuals did not differ significantly in their standardized multilocus heterozygosity. Such a lack of association implies that hypopigmented individuals are unlikely to suffer disproportionately from inbreeding depression, and hence, we have no reason to believe that they are at a selective disadvantage in the wider population. |
format |
Article in Journal/Newspaper |
author |
Peters, Lucy Humble, Emily Kröcker, Nicole Fuchs, Birgit Forcada, Jaume Hoffman, Joseph I. |
spellingShingle |
Peters, Lucy Humble, Emily Kröcker, Nicole Fuchs, Birgit Forcada, Jaume Hoffman, Joseph I. Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals |
author_facet |
Peters, Lucy Humble, Emily Kröcker, Nicole Fuchs, Birgit Forcada, Jaume Hoffman, Joseph I. |
author_sort |
Peters, Lucy |
title |
Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals |
title_short |
Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals |
title_full |
Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals |
title_fullStr |
Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals |
title_full_unstemmed |
Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals |
title_sort |
born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in antarctic fur seals |
publisher |
Wiley |
publishDate |
2016 |
url |
http://nora.nerc.ac.uk/id/eprint/514083/ https://nora.nerc.ac.uk/id/eprint/514083/1/Peters.pdf https://doi.org/10.1002/ece3.2290 |
geographic |
Antarctic |
geographic_facet |
Antarctic |
genre |
Antarc* Antarctic Antarctic Fur Seals Arctocephalus gazella |
genre_facet |
Antarc* Antarctic Antarctic Fur Seals Arctocephalus gazella |
op_relation |
https://nora.nerc.ac.uk/id/eprint/514083/1/Peters.pdf Peters, Lucy; Humble, Emily; Kröcker, Nicole; Fuchs, Birgit; Forcada, Jaume orcid:0000-0002-2115-0150 Hoffman, Joseph I. 2016 Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecology and Evolution, 6 (16). 5705-5717. https://doi.org/10.1002/ece3.2290 <https://doi.org/10.1002/ece3.2290> |
op_rights |
cc_by |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.1002/ece3.2290 |
container_title |
Ecology and Evolution |
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6 |
container_issue |
16 |
container_start_page |
5705 |
op_container_end_page |
5717 |
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1766251538371575808 |