High-depth African genomes inform human migration and health
Choudhury, Ananyo (University of the Witwatersrand)
Aron, S. (University of the Witwatersrand)
Botigué, Laura (Centre de Recerca en Agrigenòmica)
Sengupta, D. (University of the Witwatersrand)
Botha, G. (University of Cape Town)
Bensellak, T. (Abdelmalek Essaadi University)
Wells, G. (University of the Western Cape)
Kumuthini, J. (University of the Western Cape)
Shriner, Daniel (National Institutes of Health (USA))
Fakim, Y. J. (University of Mauritius)
Ghoorah, A. W. (University of Mauritius)
Dareng, E. (Institute of Human Virology Nigeria)
Odia, T. (Covenant University)
Falola, O. (Covenant University)
Adebiyi, E. (Covenant University)
Hazelhurst, S. (University of the Witwatersrand)
Mazandu, G. (University of Cape Town)
Nyangiri, O. A. (Makerere University)
Mbiyavanga, M. (University of Cape Town)
Benkahla, A. (Institute Pasteur of Tunis)
Kassim, S. K. (Ain Shams University (El Caire, Egipte))
Mulder, N. (University of Cape Town)
Adebamowo, S. N. (University of Maryland Baltimore)
Chimusa, E. R. (University of Cape Town)
Muzny, D. (Baylor College of Medicine)
Metcalf, G. (Baylor College of Medicine)
Gibbs, R. A. (Baylor College of Medicine)
Rotimi, C. (National Institutes of Health (USA))
Ramsay, M. (University of the Witwatersrand)
Adeyemo, Adebowale A (National Institutes of Health (USA))
Lombard, Z. (University of the Witwatersrand)
Hanchard, N. A. (Baylor College of Medicine)
TrypanoGEN Research Group
H3Africa Consortium

Fecha:	2020
Resumen:	The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed. Here we performed whole-genome sequencing analyses of 426 individuals-comprising 50 ethnolinguistic groups, including previously unsampled populations-to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon-but in other genes, variants denoted as 'likely pathogenic' in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health.
Ayudas:	Ministerio de Economía y Competitividad SEV-2015-0533
Nota:	Altres ajuts: CERCA Programme/Generalitat de Catalunya
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Africa ; Datasets as Topic ; DNA Repair ; Female ; Gene Flow ; Genetic Variation ; Genetics, Medical ; Genetics, Population ; Genome, Human ; Genomics ; Health ; History, Ancient ; Human Migration ; Humans ; Immunity ; Language ; Male ; Metabolism ; Selection, Genetic ; Whole Genome Sequencing
Publicado en:	Nature, Vol. 586 (October 2020) , p. 741-748, ISSN 1476-4687

DOI: 10.1038/s41586-020-2859-7
PMID: 33116287

26 p, 17.4 MB

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