Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2
Abstract
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. 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). 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.
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A light skinned phenotype may have been common in the Levant_ChL population.
“suggesting that a light skinned phenotype may have been common in this population”
From Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation (2018) · cites this paper as [41]
An allele at rs1426654 in the SLC24A5 gene is one of the most important determinants of light pigmentation in West Eurasians.
“an allele at rs1426654 in the SLC24A5 gene which is one of the most important determinants of light pigmentation in West Eurasians41”
From Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation (2018) · cites this paper as [41]
Several studies comparing allele frequencies of candidate skin-pigmentation SNPs across multiple global populations present evidence supporting an independent genetic mechanism for the lighter skin pigmentation of East Asians that is distinct from genetic factors influencing lighter pigmentation in Europeans.
“Furthermore, as was mentioned earlier in this discussion, several studies comparing allele frequencies of candidate skin-pigmentation SNPs across multiple global populations present evidence supporting an independent genetic mechanism for the lighter skin pigmentation of East Asians that is distinct from genetic factors influencing lighter pigmentation in Europeans.12,13,25”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [25]
All three SNPs are essentially monomorphic in African and East Asian populations and thus are unlikely to contribute significantly to skin-pigmentation variation within those groups.
“All three of the SNPs are essentially monomorphic in African and East Asian populations and thus are unlikely to contribute significantly to skin-pigmentation variation within those groups.13,25,29,30”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [25]
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References 25 · Cited by 128
- Authors
- Soejima, M., & Koda, Y.
- Affiliations
- Kurume University (JP)
- Corresponding author
- Koda, Yoshiro
- Venue
- International Journal of Legal Medicine
- Published
- 2006-07-18
- Volume
- 121
- Issue
- 1
- Pages
- 36-39
- ISSN
- 0044-3433 (ISSN-L)
- 0937-9827
- 1437-1596
- OpenAlex
- W1990829771
- Cited by
- 128
- References
- 25
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 6 · 2023: 6 · 2022: 3 · 2021: 10 · 2020: 12 · 2019: 4 · 2018: 8 · 2017: 6 · 2016: 3 · 2015: 10 · 2014: 3 · 2013: 9 · 2012: 6
- FWCI
- 3.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- International Journal of Legal Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Japan Society for the Promotion of Science
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- SLC24A5, SLC45A2, skin pigmentation, ancestry informative markers, single nucleotide polymorphisms, allele frequency, forensic identification, population genetic variation, Sri Lankan population, European populations
- MeSH terms
- Africa, Antigens, Neoplasm, China, Gene Frequency, Genetic Markers, Humans, Skin Pigmentation, Sri Lanka, DNA Fingerprinting, Antiporters, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Population Groups, White People
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