2012
DOI: 10.1186/gb-2012-13-9-248
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Human pigmentation genes under environmental selection

Abstract: Genome-wide association studies and comparative genomics have established major loci and specific polymorphisms affecting human skin, hair and eye color. Environmental changes have had an impact on selected pigmentation genes as populations have expanded into different regions of the globe.

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Cited by 182 publications
(151 citation statements)
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References 137 publications
(170 reference statements)
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“…The intuition in using this variable comes from the biology literature. In addition to the apparent and well-known effects of UV radiation on skin color, UV radiation can cause mutations of genes, thus affecting alleles (e.g., Sturm and Duffy, 2012;Kozmin et al, 2005). Further, differences in UV radiation affect the natural landscape with indirect but profound implications for the way humans change their lifestyles and form their societies.…”
Section: Empirical Identificationmentioning
confidence: 99%
“…The intuition in using this variable comes from the biology literature. In addition to the apparent and well-known effects of UV radiation on skin color, UV radiation can cause mutations of genes, thus affecting alleles (e.g., Sturm and Duffy, 2012;Kozmin et al, 2005). Further, differences in UV radiation affect the natural landscape with indirect but profound implications for the way humans change their lifestyles and form their societies.…”
Section: Empirical Identificationmentioning
confidence: 99%
“…1B) illustrates the collaboration patterns between 10 top clusters consisting of 1903 authors representing 29.6% of the field. Some influential authors (only one per cluster is listed here due to space limitation) are listed in the following in alphabetical order together with their respective fields of research: BARSH GS (mammalian pigmentation [1,2]), FISHER DE (melanoma [3]), HEARING VJ (melanogenesis [4]), STURM RA (human pigmentation [5][6][7]), KAYSER M (prediction [8]), PAUS R (hair follicle [9]), REES JL (evolution [10]), SHRIVER MD (evolution [11,12]), SOUFIR N (melanoma [13]), SPRITZ RA (vitiligo [14]). These figures demonstrate the variety of research areas involved in human pigmentation genetics some of which we discuss below.…”
Section: Setting the Scene: Human Pigmentation Genetics -The Field Anmentioning
confidence: 99%
“…Another trait that changed significantly during human evolution is pigmentation. Several regulators of pigmentation, including the ligand for the c-KIT receptor (KITLG) (Sturm and Duffy, 2012), contain human-specific protein-coding changes that may have evolved through positive selection. Such examples are compelling, but additional work is required to show that these genes are indeed responsible for modification of the associated traits in humans.…”
Section: Single Nucleotide Substitutionsmentioning
confidence: 99%