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[QUOTE]Originally posted by Ish Gebor: [QB] [IMG]http://www.plosgenetics.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pgen.1003912.t001&representation=PNG_M[/IMG] [QUOTE] The L374F polymorphism of the SLC45A2 gene, encoding the membrane-associated transporter protein that plays an important role in melanin synthesis, has been suggested to be associated with skin color in human populations. In this study, the detailed distribution of the 374f and 374l alleles has been investigated in 2,581 unrelated subjects from 36 North, East, West, and Central African populations. We found once more the highly significant (p 0.001) correlation coefficient (r = 0.957) cline of 374f frequencies with degrees of latitude in European and North African populations. [b]Almost all the African populations located below 16° of latitude are fixed for the 374l allele. Peul, Toucouleur, and Soninké populations have 374l allele frequencies of 0.06, 0.03, and 0.03, [/b]respectively. [/QUOTE]Near Fixation of 374l Allele Frequencies of the Skin Pigmentation Gene SLC45A2 in Africa [QUOTE]The two genes SLC24A5 and SLC45A2 were recently identified as major determinants of pigmentation in humans and in other vertebrates. The allele p.A111T in the former gene and the allele p.L374F in the latter gene are both nearly fixed in light-skinned Europeans, and can therefore be considered ancestry informative marker (AIMs). AIMs are becoming useful for forensic identification of the phenotype from a DNA profile sampled, for example, from a crime scene. [b]Here, we generate new allelic data for these two genes from samples of Chinese, Uygurs, Ghanaians, South African Xhosa, South African Europeans, and Sri Lankans (Tamils and Sinhalese). [/b]Our data confirm the earlier results and furthermore demonstrate that the SLC45A2 allele is a more specific AIM than the SLC24A5 allele because the former clearly distinguishes the Sri Lankans from the Europeans. Authors [/QUOTE]--Soejima M, Koda Y, Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2. Source Int. J. Legal Med. 2007 Jan; 121(1):36-9. Institution Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, 830-0011, Japan. http://www.unboundmedicine.com/medline/citation/16847698/Population_differences_of_two_coding_SNPs_in_pigmentation_related_genes_SLC24A5_and_SLC45A2_ SLC45A2 Gene protein-coding GIFtS: 52 GCID: GC05M033981 http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC45A2 [/QB][/QUOTE]
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