ArticlePloS one2014
The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 28 citations in OpenAlex.
- Sugar transporter SLC45 gene family members: roles in malignant tumors and research progress.Molecular biology reports · 2026Review
- Tensor Decomposition-based Feature Extraction and Classification to Detect Natural Selection from Genomic Data.Molecular biology and evolution · 2023Article
- Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.Life (Basel, Switzerland) · 2022Article
- Article
- Measurement of Melanin Metabolism in Live Cells by [U-The Journal of investigative dermatology · 2021Article
- Genome-Wide Association Study Identifies Genetic Associations with Perceived Age.The Journal of investigative dermatology · 2020Article
- SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.Molecular biology of the cell · 2020Article
- A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.Nature communications · 2019Article
- Adaptation of human skin color in various populations.Hereditas · 2018Review
- Vitamin D status and risk for malignant cutaneous melanoma: recent advances.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2017Review
- Characterization of the biological processes shaping the genetic structure of the Italian population.BMC genetics · 2015Article
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.
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