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Understanding the genetic architecture and evolution of human pigmentary traits: admixture-mapping studies in Cape Verde

Although central for understanding human adaptation, the study of the genetic basis and evolutionary history of pigmentation is still in its beginnings. One reason for this relative delay is the present lack of knowledge about the genes responsible for the diversity patterns observed in pigmentary traits. Pigmentary traits are complex phenotypes resulting from the combined action and interactions of several genes whose effects may be difficult to detect and quantify. Research on model organisms and human hereditary diseases of pigmentation have identified over 100 candidate genes that provide excellent starting points for systematic studies of the genetic basis and evolutionary history of normal human pigmentation. However, direct correlations between specific genotypes and objectively measured pigmentation phenotypes have only been explored for a small number of genes.

The long-term objective of this project was to clarify the genetic and evolutionary basis of variation in human pigmentation. Our short-term goal was focused on the evaluation of the genetic basis of the differences in skin and eye pigmentation between European and African populations using the archipelago of Cape Verde as a model population. The project involved a) the collection of 2000 DNA samples from individuals living in six major islands of Cape Verde that will be objectively measured for skin and eye pigmentation phenotypes; b) the assessment of levels of background genetic structure, and estimation of individual and population admixture proportions using highly discriminating randomly chosen polymorphisms and ancestry informative markers (AIMs); c) application of admixture mapping methods to identify genes influencing skin and eye pigmentation phenotypes, after controlling for admixture stratification using data on individual admixture levels; d) study of the evolutionary history of pigmentary genes in an extended dataset of populations from West Africa, Europe and East Asia, using linked STRs to test for natural selection and evaluate the age, geographic origin and major factors influencing the current geographic distribution of variants with functional effects on skin and eye pigmentation.

Principal Investigator
Sandra de Sousa Beleza

Sandra de Sousa Beleza

Position: Post-Doc Researcher
Jorge Rocha

Jorge Rocha

Position: Associate Professor
Other members
Isabel Alves, Isabel Inês Araújo, Mark Shriver, Esteban Parra, António Leão de Aguiar Cardoso Correia e Silva, Susana Alves Seixas, Crisolita Helena Rocha Gomes
Proponent Institution
Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares - Porto (ICETA-Porto/UP)
Funded by
Participant Institutions
Comissão Nacional para a Instalação da Universidade de Cabo Verde (CNI-uniCV), Instituto de Patologia e Imunologia Molecular (IPATIMUP/UP)
PTDC / BIA-BDE / 64044 / 2006
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