人類遷徙與健康的基因組證據
作者：
小柯機器人發布時間：2020/10/31 20:12:40
美國貝勒醫學院Neil A. Hanchard、南非約翰尼斯堡威特沃特斯蘭德大學Zané Lombard以及美國國立衛生研究院Adebowale A. Adeyemo研究組合作取得最新進展。他們展開了深度非洲基因組研究，為人類遷徙與健康提供了信息。這一研究成果於2020年10月28日發表在《自然》雜誌上。
他們對426個個體進行了全基因組測序分析，包括50個民族語言群體，其中包括以前未抽樣的人群，以探索非洲各地基因組多樣性的廣度。他們發現了超過300萬個以前未描述的變體，其中大多數是在新採樣的民族語言群體的個體中發現的，還有62個先前未報導的基因座正在嚴格選擇中，這些基因座主要存在於與病毒免疫力、DNA修復和新陳代謝等相關基因中。
他們觀察到種群內部和種群之間祖先混合、假定破壞和新穎變異的複雜模式，同時有證據表明尚比亞可能是講班圖語群體擴展路線的中間地點。目前被表徵為醫學相關基因的致病變體並不常見，但在其他基因中，通常觀察到ClinVar資料庫中被標記為「可能致病」的變體。
總而言之，這些發現完善了人們對大陸遷移的當前理解，確定了基因流和對人類疾病的反應是基因組水平人口變異的強大驅動力，並強調了更廣泛地表徵非洲個體的基因組多樣性以了解人類祖先的科學必要性以及改善健康。
據了解，非洲大陸被認為是現代人類的發源地，非洲基因組的遺傳變異比任何其他大陸都多，但僅非洲個體遺傳多樣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