Detecting genomic signatures of natural selection with principal component analysis: application to the 1000 Genomes data.
Berkeley, United States. In Mol Biol Evol, Jan 2016
The correlations between genetic variation and each principal component provide well-known targets for positive selection (EDAR, SLC24A5, SLC45A2, DARC), and also new candidate genes (APPBPP2, TP1A1, RTTN, KCNMA, MYO5C) and non-coding RNAs.
Molecular genetic response of Xiphophorus maculatus-X. couchianus interspecies hybrid skin to UVB exposure.
San Marcos, United States. In Comp Biochem Physiol C Toxicol Pharmacol, Dec 2015
We characterized a group of unique UVB-responsive genes in Sp-Couch hybrid including dct, pmela, tyr, tyrp1a, slc2a11b, rab38a, rab27, tspan10, slc45a2, oca2, slc24a5, ptn and mitfa.
Novel genomic signals of recent selection in an Ethiopian population.
Bethesda, United States. In Eur J Hum Genet, Aug 2015
Finally, the SLC24A5 gene locus known to be associated with skin pigmentation was in the top selection signals in the Wolaita, and the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) associated with light skin pigmentation in Eurasian populations were of high frequency (47.9%) in this Omotic-speaking indigenous Ethiopian population.
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
Berlin, Germany. In Semin Cell Dev Biol, 2013
Whereas similar disorders and similar-looking coat colour phenotypes sometimes have a different genetic background (e.g., deafness [EDN3/EDNRB, MITF, PAX and SNAI2] and visual diseases [OCA2, RAB38, SLC24A5, SLC45A2, TRPM1 and TYR]).
Genetics of pigmentation and melanoma predisposition.
Salt Lake City, United States. In G Ital Dermatol Venereol, 2010
Genome-wide association studies (GWAS) have unveiled single nucleotide polymorphisms (SNPs) or genetic variants in MC1R, TPCN2, ASIP, KITLG, NCKX5, TYR, IRF4, OCA2, and TYRP1 pigmentation genes.
Genome-wide detection and characterization of positive selection in human populations.
Cambridge, United States. In Nature, 2007
Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.