IP: Dr. Santos Alonso Alegre

Resumen del proyecto: To understand our phenotypic diversity from an evolutionary point of view helps us understand our own ability to face environmental challenges, and consequently, assess our possibilities to survive as a species. Thus, the pigmentation of the human skin is one of the most diverse human phenotypic traits, and one of the most important ones from the evolutionary point of view. As regards light skin, the most accepted evolutionary hypothesis explains the de-pigmentation process of modern Homo sapiens after they left Africa as an adaptive process that favours vitamin D synthesis in regions of low solar radiation. Our own work shows that in Southern Europe at least, there is population-genetic evidence form a clear evolutionary interest in favouring light skin. This outbalances the possible loss that an increase in the risk of skin cancer could cause. Thus, we observe that at some mutations that are associated to an increased risk of melanoma are simultaneously associated to a light skin and are also subject to positive selection. Therefore, we propose to investigate this possible relationship between active vitamin D and skin pigmentation by means of genomic tools although in a anthropological, evolutionary framework. This includes: a) the treatment of melanocytic cell lines from donors of dark and light pigmentation (3 of each) with active vitamin D; b) the identification by ChIP-Seq and RNA-Seq of those genes that after this treatment are activated or repressed; c) the analysis by MeDIP-Seq of those epigenetic changes (methylation) that may also hold an influence of the expression of relevant genes; and d) a genetic diversity analysis in search of evidence for selection in a set of candidate genes. This research will also contribute important information for health-related issues like skin diseases (psoriasis, vitiligo or skin cancer) among other diseases associated to vitamin D.

Entidad financiadora: Ministerio de Economía y Competitividad