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Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans
Authors:Santos Alonso  Neskuts Izagirre  Isabel Smith-Zubiaga  Jesús Gardeazabal  José Luís Díaz-Ramón  José Luís Díaz-Pérez  Diana Zelenika  María Dolores Boyano  Nico Smit  Concepción de la Rúa
Affiliation:1.Dept. Genetics, Physical Anthropology and Animal Physiology,University of the Basque Country,Leioa,Spain;2.Dept. Zoology and Animal Cell Biology,University of the Basque Country,Leioa,Spain;3.Dermatology Service,Cruces Hospital,Cruces-Barakaldo,Spain;4.Centre National de Génotypage (CNG),Evry Cedex,France;5.Dept. Cell Biology and Histology,University of the Basque Country,Leioa,Spain;6.Department of Clinical Chemistry,L01-036 Leiden University Medical Center,Leiden,The Netherlands
Abstract:

Background  

The observed correlation between ultraviolet light incidence and skin color, together with the geographical apportionment of skin reflectance among human populations, suggests an adaptive value for the pigmentation of the human skin. We have used Affymetrix U133a v2.0 gene expression microarrays to investigate the expression profiles of a total of 9 melanocyte cell lines (5 from lightly pigmented donors and 4 from darkly pigmented donors) plus their respective unirradiated controls. In order to reveal signatures of selection in loci with a bearing on skin pigmentation in humans, we have resequenced between 4 to 5 kb of the proximal regulatory regions of three of the most differently expressed genes, in the expectation that variation at regulatory regions might account for intraespecific morphological diversity, as suggested elsewhere.
Keywords:
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