TY - JOUR
T1 - Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans
AU - Makova, Kateryna
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.
PY - 2005/10
Y1 - 2005/10
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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U2 - 10.1016/j.peptides.2004.12.032
DO - 10.1016/j.peptides.2004.12.032
M3 - Review article
C2 - 15979202
AN - SCOPUS:25144477342
VL - 26
SP - 1901
EP - 1908
JO - Peptides
JF - Peptides
SN - 0196-9781
IS - 10
ER -