| Title: |
High-depth African genomes inform human migration and health |
| Authors: |
Choudhury, Ananyo; Aron, S.; Botigué, Laura; Sengupta, Dhriti; Botha, G.; Bensellak, T.; Wells, G.; Kumuthini, J.; Shriner, Daniel; Fakim, Y. J.; Ghoorah, A. W.; Dareng, E.; Odia, T.; Falola, O.; Adebiyi, E.; Hazelhurst, S.; Mazandu, G.; Nyangiri, O. A.; Mbiyavanga, M.; Benkahla, A.; Kassim, S. K.; Mulder, N.; Adebamowo, S. N.; Chimusa, E. R.; Muzny, D.; Metcalf, G.; Gibbs, R. A.; Rotimi, C.; Ramsay, M.; Adeyemo, Adebowale A; Lombard, Z.; Hanchard, N. A.; TrypanoGEN Research Group; H3Africa Consortium |
| Publication Year: |
2020 |
| Collection: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| Subject Terms: |
Africa; Datasets as Topic; DNA Repair; Female; Gene Flow; Genetic Variation; Genetics; Medical; Population; Genome; Human; Genomics; Health; History; Ancient; Human Migration; Humans; Immunity; Language; Male; Metabolism; Selection; Genetic; Whole Genome Sequencing |
| Description: |
Altres ajuts: CERCA Programme/Generalitat de Catalunya ; 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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| ISSN: |
14764687 |
| Relation: |
Ministerio de Economía y Competitividad SEV-2015-0533; Nature; Vol. 586 (October 2020), p. 741-748; https://ddd.uab.cat/record/255924; urn:oai:ddd.uab.cat:255924; urn:scopus_id:85094200679; urn:articleid:14764687v586p741; urn:pmid:33116287; urn:pmcid:PMC7759466; urn:oai:pubmedcentral.nih.gov:7759466 |
| Availability: |
https://ddd.uab.cat/record/255924 |
| Rights: |
open access ; 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. ; https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.5003BAF |
| Database: |
BASE |