Integrative Genomics of Body Size and Metabolism in Ethnically Diverse Africans

University Of Pennsylvania, Philadelphia PA

Investigators

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Abstract

Summary In this supplement, we propose to extend our research to address a number of important and novel questions. We will use a novel whole genome sequencing dataset to reconstruct the demographic history of a number of ethnic groups in Cameroon including hunter-gatherers, pastoralists, and agriculturalists and will identify genomic targets of natural selection and associations with a number of adaptive traits. We hypothesize that many of these variants will in non-coding regions and play a role in gene regulation. We will use in vitro reporter assays and chromatin capture techniques to distinguish enhancer/promoter interactions. Lastly, we will extend our field work in Cameroon to study new populations including albinos from western, Central, and eastern Cameroon. We will collect new phenotype data including information about circadian rhythms, sleep wake cycles, and cardiac function. We will genotype these new samples for an African specific single nucleotide polymorphism (SNP) array and will impute variants not included in the array using our whole genome sequence data as reference genomes.