Abstract
Ancestry informative markers (AIMs) are human polymorphisms that exhibit substantially allele frequency differences among populations. These markers can be useful to provide information about ancestry of samples which may be useful in predicting a perpetrator’s ethnic origin to aid criminal investigations. Variations in human pigmentation are the most obvious phenotypes to distinguish individuals. It has been recently shown that the variation of a G in an A allele of the coding single-nucleotide polymorphism (SNP) rs1426654 within SLC24A5 gene varies in frequency among several population samples according to skin pigmentation. Because of these observations, the SLC24A5 locus has been evaluated as Ancestry Informative Region (AIR) by typing rs1426654 together with two additional intragenic markers (rs2555364 and rs16960620) in 471 unrelated individuals originating from three different continents (Africa, Asia and Europe). This study further supports the role of human SLC24A5 gene in skin pigmentation suggesting that variations in SLC24A5 haplotypes can correlate with human migration and ancestry. Furthermore, our data do reveal the utility of haplotype and combined unphased genotype analysis of SLC24A5 in predicting ancestry and provide a good example of usefulness of genetic characterization of larger regions, in addition to single polymorphisms, as candidates for population-specific sweeps in the ancestral population.
Highlights
The variation of pigmentation in humans is associated with melanosomes, the pigmented organelles of melanocytes, variable in number, size, and density [1]
They observed that the G and A alleles of a coding single-nucleotide polymorphism (SNP) rs1426654, whose corresponding aminoacid is alanine or threonine, respectively, varies in frequency among several population samples according to skin pigmentation
In order to improve the effectiveness of rs1426654 in discrimination of Asian population we decided to type two new informative flanking SNPs other than the rs1426654 in 471 unrelated individuals originating from three different continents (Africa, Asia and Europe)
Summary
The variation of pigmentation in humans is associated with melanosomes, the pigmented organelles of melanocytes, variable in number, size, and density [1]. Lamason et al (2005) showed that zebrafish 'golden' phenotype is due to mutations of the SLC24A5 gene encoding for a protein belonging to the family of potassium-dependent sodium/calcium exchangers [3] They observed that the G and A alleles of a coding single-nucleotide polymorphism (SNP) rs1426654, whose corresponding aminoacid is alanine or threonine, respectively, 0001), varies in frequency among several population samples according to skin pigmentation For this specific feature, In order to improve the effectiveness of rs1426654 in discrimination of Asian population we decided to type two new informative flanking SNPs (rs2555364 and rs16960620) other than the rs1426654 in 471 unrelated individuals originating from three different continents (Africa, Asia and Europe)
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