Resumen de The role of positive selection on zinc transporter genes
Zinc is an essential micronutrient involved in many different biological processes. Zinc homeostasis is mainly regulated by 24 zinc transporters coded by the Zinc Transporter Genes (ZTGs). Notably, zinc body content is highly dependent on environmental zinc availability, and its deficiency is life-threatening for several human populations. Since differences in zinc homeostasis may be adaptive to local dietary and environmental conditions, we explored the complete set of 24 human ZTGs for signatures of positive selection using genomes from worldwide populations in the 1000 Genomes Project and South Asian populations in the 100K GenomeAsia Project. We have identified unusual patterns of variation resulting from strong selective sweeps on a few ZTGs but also from polygenic selection on the whole set of ZTGs, especially in South Asia. To understand the evolutionary history of the strong signal of positive selection we confirmed in SLC30A9 and fill the gap between genotype and phenotype, we also explored the functional implications of a putative candidate variant behind this case of adaptation.
