美国贝勒医学院Neil A. Hanchard、南非约翰内斯堡威特沃特斯兰德大学Zané Lombard以及美国国立卫生研究院Adebowale A. Adeyemo研究组合作取得最新进展。他们展开了深度非洲基因组研究，为人类迁徙与健康提供了信息。这一研究成果于2020年10月28日发表在《自然》杂志上。
他们对426个个体进行了全基因组测序分析，包括50个民族语言群体，其中包括以前未抽样的人群，以探索非洲各地基因组多样性的广度。他们发现了超过300万个以前未描述的变体，其中大多数是在新采样的民族语言群体的个体中发现的，还有62个先前未报道的基因座正在严格选择中，这些基因座主要存在于与病毒免疫力、DNA修复和新陈代谢等相关基因中。
他们观察到种群内部和种群之间祖先混合、假定破坏和新颖变异的复杂模式，同时有证据表明赞比亚可能是讲班图语群体扩展路线的中间地点。目前被表征为医学相关基因的致病变体并不常见，但在其他基因中，通常观察到ClinVar数据库中被标记为“可能致病”的变体。
总而言之，这些发现完善了人们对大陆迁移的当前理解，确定了基因流和对人类疾病的反应是基因组水平人口变异的强大驱动力，并强调了更广泛地表征非洲个体的基因组多样性以了解人类祖先的科学必要性以及改善健康。
据了解，非洲大陆被认为是现代人类的发源地，非洲基因组的遗传变异比任何其他大陆都多，但仅非洲个体遗传多样性的一小部分被研究。
附：英文原文
Title: High-depth African genomes inform human migration and health
Author: Ananyo Choudhury, Shaun Aron, Laura R. Botigu, Dhriti Sengupta, Gerrit Botha, Taoufik Bensellak, Gordon Wells, Judit Kumuthini, Daniel Shriner, Yasmina J. Fakim, Anisah W. Ghoorah, Eileen Dareng, Trust Odia, Oluwadamilare Falola, Ezekiel Adebiyi, Scott Hazelhurst, Gaston Mazandu, Oscar A. Nyangiri, Mamana Mbiyavanga, Alia Benkahla, Samar K. Kassim, Nicola Mulder, Sally N. Adebamowo, Emile R. Chimusa, Donna Muzny, Ginger Metcalf, Richard A. Gibbs, Charles Rotimi, Michle Ramsay, Adebowale A. Adeyemo, Zan Lombard, Neil A. Hanchard
Issue&Volume: 2020-10-28
Abstract: 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.
DOI: 10.1038/s41586-020-2859-7
Source: https://www.nature.com/articles/s41586-020-2859-7
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
