Mathias RA, Taub MA, Gignoux CR, Fu W, Musharoff S, O'Connor TD, Vergara C, Torgerson DG, Pino-Yanes M, Shringarpure SS, Huang L, Rafaels N, Boorgula MP, Johnston HR, Ortega VE, Levin AM, Song W, Torres R, Padhukasahasram B, Eng C, Mejia-Mejia D, Ferguson T, Qin ZS, Scott AF, Yazdanbakhsh M, Wilson JG, Marrugo J, Lange LA, Kumar R, Avila P, Williams KL, Watson H, Ware L, Olopade C, Olopade O, Oliveira R, Ober C, Nicolae D, Meyers D, Mayorga A, Knight-Madden J, Hartert T, Hansel N, Foreman M, Ford J, Faruque M, Dunston G, Caraballo L, Burchard E, Bleecker E, Araujo M, Herrera-Paz E, Gietzen K, Grus W, Bamshad M, Bustamante C, Kenny E, Hernandez R, Beaty T, Ruczinski I, Akey J, Barnes K. A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome. Nat Commun 2016; 7:12522.
The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale population structure of descendants of the African Diaspora remains largely uncharacterized. Here we present genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the burden of deleterious variants carried across populations and how this varies with African ancestry. Our data are an important resource for empowering disease mapping studies in African-admixed individuals and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry.
Medical Subject Headings
African Continental Ancestry Group; Base Sequence; DNA, Intergenic; Female; Gene Flow; Genetic Heterogeneity; Genome, Human; Geography; Human Migration; Humans; Male; Phylogeny; Polymorphism, Single Nucleotide; Sexism