Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals

Peters L, Humble E, Kröcker N, Fuchs B, Forcada J, Hoffman J (2016)
Ecol Evol 6(16): 5705-5717.

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Abstract
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.
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Article Processing Charge funded by the Deutsche Forschungsgemeinschaft and the Open Access Publication Fund of Bielefeld University.
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Peters L, Humble E, Kröcker N, Fuchs B, Forcada J, Hoffman J. Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecol Evol. 2016;6(16):5705-5717.
Peters, L., Humble, E., Kröcker, N., Fuchs, B., Forcada, J., & Hoffman, J. (2016). Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecol Evol, 6(16), 5705-5717. doi:10.1002/ece3.2290
Peters, L., Humble, E., Kröcker, N., Fuchs, B., Forcada, J., and Hoffman, J. (2016). Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecol Evol 6, 5705-5717.
Peters, L., et al., 2016. Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecol Evol, 6(16), p 5705-5717.
L. Peters, et al., “Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals”, Ecol Evol, vol. 6, 2016, pp. 5705-5717.
Peters, L., Humble, E., Kröcker, N., Fuchs, B., Forcada, J., Hoffman, J.: Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals. Ecol Evol. 6, 5705-5717 (2016).
Peters, Lucy, Humble, Emily, Kröcker, Nicole, Fuchs, Birgit, Forcada, Jaume, and Hoffman, Joseph. “Born blonde: a recessive loss-of-function mutation in the melanocortin 1 receptor is associated with cream coat coloration in Antarctic fur seals”. Ecol Evol 6.16 (2016): 5705-5717.
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96 References

Data provided by Europe PubMed Central.

Genepop (version 1.2) – population genetics software for exact tests of ecumenicism
AUTHOR UNKNOWN, 1995
Inheritance and population structure of the white-phased "Kermode" black bear.
Ritland K, Newton C, Marshall HD., Curr. Biol. 11(18), 2001
PMID: 11566108
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.
Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, Cone RD., Cell 72(6), 1993
PMID: 8458079
Nuclear gene indicates coat-color polymorphism in mammoths.
Rompler H, Rohland N, Lalueza-Fox C, Willerslev E, Kuznetsova T, Rabeder G, Bertranpetit J, Schoneberg T, Hofreiter M., Science 313(5783), 2006
PMID: 16825562
The structure and function of G-protein-coupled receptors.
Rosenbaum DM, Rasmussen SG, Kobilka BK., Nature 459(7245), 2009
PMID: 19458711

AUTHOR UNKNOWN, 1989
Isolation and cross‐species amplification of novel microsatellite loci in a charismatic marine mammal species, the northern elephant seal (Mirounga angustirostris)
AUTHOR UNKNOWN, 2013
Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.
Schioth HB, Phillips SR, Rudzish R, Birch-Machin MA, Wikberg JE, Rees JL., Biochem. Biophys. Res. Commun. 260(2), 1999
PMID: 10403794
The genetics of cream coat color in dogs.
Schmutz SM, Berryere TG., J. Hered. 98(5), 2007
PMID: 17485734
TYRP1 and MC1R genotypes and their effects on coat color in dogs.
Schmutz SM, Berryere TG, Goldfinch AD., Mamm. Genome 13(7), 2002
PMID: 12140685
Chemical fingerprints encode mother-offspring similarity, colony membership, relatedness, and genetic quality in fur seals.
Stoffel MA, Caspers BA, Forcada J, Giannakara A, Baier M, Eberhart-Phillips L, Muller C, Hoffman JI., Proc. Natl. Acad. Sci. U.S.A. 112(36), 2015
PMID: 26261311
inbreedR: An R package for the analysis of inbreeding based on genetic markers
AUTHOR UNKNOWN, 2016
A possible involvement of melanocortin 1-receptor in regulating feather color pigmentation in the chicken.
Takeuchi S, Suzuki H, Yabuuchi M, Takahashi S., Biochim. Biophys. Acta 1308(2), 1996
PMID: 8764834
PANTHER: a library of protein families and subfamilies indexed by function.
Thomas PD, Campbell MJ, Kejariwal A, Mi H, Karlak B, Daverman R, Diemer K, Muruganujan A, Narechania A., Genome Res. 13(9), 2003
PMID: 12952881
Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools.
Thomas PD, Kejariwal A, Guo N, Mi H, Campbell MJ, Muruganujan A, Lazareva-Ulitsky B., Nucleic Acids Res. 34(Web Server issue), 2006
PMID: 16912992
Primer3Plus, an enhanced web interface to Primer3.
Untergasser A, Nijveen H, Rao X, Bisseling T, Geurts R, Leunissen JA., Nucleic Acids Res. 35(Web Server issue), 2007
PMID: 17485472
First confirmed record of a leucistic Antarctic fur seal pup born outside the Scotia Arc Islands
AUTHOR UNKNOWN, 2015
Development of new microsatellite loci and evaluation of loci from other pinniped species for the Galapagos sea lion (Zalophus californianus wollebaeki)
AUTHOR UNKNOWN, 2005
Effects of population structure on genetic association studies.
Xu H, Shete S., BMC Genet. 6 Suppl 1(), 2005
PMID: 16451565

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