Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans

Kateryna Makova; Heather Norton

doi:10.1016/j.peptides.2004.12.032

Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans

Kateryna Makova, Heather Norton

Research output: Contribution to journal › Review article › peer-review

69 Scopus citations

Abstract

While there have been many advances in our understanding of the genetics of pathological skin pigmentation in humans, our knowledge about what determines variation in normal skin color is still incomplete. Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans. However, this gene might also play an important role in shaping pigmentation of other human populations, where it experiences different selective pressures. Below we review what is currently known about polymorphism and selection at the MC1R coding and promoter regions in human populations, the pattern of MC1R evolution in nonhuman primates, and the interaction of MC1R with other genes.

Original language	English (US)
Pages (from-to)	1901-1908
Number of pages	8
Journal	Peptides
Volume	26
Issue number	10
DOIs	https://doi.org/10.1016/j.peptides.2004.12.032
State	Published - Oct 2005

All Science Journal Classification (ASJC) codes

Biochemistry
Physiology
Endocrinology
Cellular and Molecular Neuroscience

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title = "Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans",

abstract = "While there have been many advances in our understanding of the genetics of pathological skin pigmentation in humans, our knowledge about what determines variation in normal skin color is still incomplete. Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans. However, this gene might also play an important role in shaping pigmentation of other human populations, where it experiences different selective pressures. Below we review what is currently known about polymorphism and selection at the MC1R coding and promoter regions in human populations, the pattern of MC1R evolution in nonhuman primates, and the interaction of MC1R with other genes.",

author = "Kateryna Makova and Heather Norton",

note = "Funding Information: We are grateful to Paula Goetting-Minesky and Erika Kvikstad for comments on the earlier versions of this manuscript. KM was supported by start-up funds from the Eberly College of Science at Penn State and HN was supported by Dissertation Fieldwork Grant #7138 from the Wenner Gren Foundation.",

year = "2005",

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language = "English (US)",

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AU - Norton, Heather

N1 - Funding Information: We are grateful to Paula Goetting-Minesky and Erika Kvikstad for comments on the earlier versions of this manuscript. KM was supported by start-up funds from the Eberly College of Science at Penn State and HN was supported by Dissertation Fieldwork Grant #7138 from the Wenner Gren Foundation.

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N2 - While there have been many advances in our understanding of the genetics of pathological skin pigmentation in humans, our knowledge about what determines variation in normal skin color is still incomplete. Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans. However, this gene might also play an important role in shaping pigmentation of other human populations, where it experiences different selective pressures. Below we review what is currently known about polymorphism and selection at the MC1R coding and promoter regions in human populations, the pattern of MC1R evolution in nonhuman primates, and the interaction of MC1R with other genes.

AB - While there have been many advances in our understanding of the genetics of pathological skin pigmentation in humans, our knowledge about what determines variation in normal skin color is still incomplete. Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans. However, this gene might also play an important role in shaping pigmentation of other human populations, where it experiences different selective pressures. Below we review what is currently known about polymorphism and selection at the MC1R coding and promoter regions in human populations, the pattern of MC1R evolution in nonhuman primates, and the interaction of MC1R with other genes.

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