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High-depth African genomes inform human migration and health
Nature ( IF 64.8 ) Pub Date : 2020-10-28 , DOI: 10.1038/s41586-020-2859-7
Ananyo Choudhury 1 , Shaun Aron 1 , Laura R Botigué 2 , Dhriti Sengupta 1 , Gerrit Botha 3 , Taoufik Bensellak 4 , Gordon Wells 5, 6, 7 , Judit Kumuthini 5, 6 , Daniel Shriner 8 , Yasmina J Fakim 9, 10 , Anisah W Ghoorah 10 , Eileen Dareng 11, 12 , Trust Odia 13 , Oluwadamilare Falola 13 , Ezekiel Adebiyi 13, 14 , Scott Hazelhurst 1, 15 , Gaston Mazandu 3 , Oscar A Nyangiri 16 , Mamana Mbiyavanga 3 , Alia Benkahla 17 , Samar K Kassim 18 , Nicola Mulder 3 , Sally N Adebamowo 19, 20 , Emile R Chimusa 21 , Donna Muzny 22 , Ginger Metcalf 22 , Richard A Gibbs 22, 23 , , Charles Rotimi 8 , Michèle Ramsay 1, 24 , , Adebowale A Adeyemo 8 , Zané Lombard 24 , Neil A Hanchard 23
Affiliation  

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 surveyed1. 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.

中文翻译:

高深度的非洲基因组为人类迁徙和健康提供信息

非洲大陆被认为是现代人类的摇篮,非洲基因组包含的遗传变异比任何其他大陆都多,但仅对非洲个体遗传多样性的一小部分进行了调查1。在这里,我们对 426 个个体(包括 50 个民族语言群体,包括以前未抽样的人群)进行了全基因组测序分析,以探索整个非洲基因组多样性的广度。我们发现了超过 300 万个以前未描述的变体,其中大部分是在新采样的民族语言群体的个体中发现的,以及 62 个以前未报告的处于强选择下的基因座,这些基因座主要存在于与病毒免疫、DNA 相关的基因中修复和新陈代谢。我们在种群内部和种群之间观察到复杂的祖先混合模式和假定的破坏性和新的变异,同时有证据表明赞比亚可能是班图语人口扩张路线上的中间地点。目前被定性为医学相关基因的致病变异并不常见——但在其他基因中,通常观察到在 ClinVar 数据库中被称为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。人口内部和人口之间,以及赞比亚可能是班图语人口扩张路线上的中间地点的证据。目前被定性为医学相关基因的致病变异并不常见——但在其他基因中,通常观察到在 ClinVar 数据库中被称为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。人口内部和人口之间,以及赞比亚可能是班图语人口扩张路线上的中间地点的证据。目前被定性为医学相关基因的致病变异并不常见——但在其他基因中,通常观察到在 ClinVar 数据库中被称为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。有证据表明赞比亚可能是班图语人口扩张路线的中间地点。目前被定性为医学相关基因的致病变异并不常见——但在其他基因中,通常观察到在 ClinVar 数据库中被称为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。有证据表明赞比亚可能是班图语人口扩张路线的中间地点。目前被定性为医学相关基因的致病变异并不常见——但在其他基因中,通常观察到在 ClinVar 数据库中被称为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。通常观察到在 ClinVar 数据库中标记为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。通常观察到在 ClinVar 数据库中标记为“可能致病”的变异。总的来说,这些发现完善了我们目前对大陆迁移的理解,将基因流动和对人类疾病的反应确定为基因组水平人口变异的强大驱动力,并强调了对非洲个体基因组多样性进行更广泛表征以了解人类的科学必要性。祖先和改善健康。
更新日期:2020-10-28
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