变化(天文学)
选择(遗传算法)
进化生物学
结构变异
生物
人工智能
计算机科学
遗传学
基因组
基因
天体物理学
物理
作者
PingHsun Hsieh,Natthapon Soisangwan,David Gordon,Athef Javidh,William T. Harvey,David Porubskỳ,Kendra Hoekzema,Carl Baker,Katherine M. Munson,Christopher Kinipi,Matthew Leavesley,Nicolas Brucato,Murray P. Cox,François‐Xavier Ricaut,Irene Gallego Romero,Evan E. Eichler
出处
期刊:Science
[American Association for the Advancement of Science]
日期:2026-06-11
卷期号:392 (6803): eadz7518-eadz7518
被引量:5
标识
DOI:10.1126/science.adz7518
摘要
Genetic introgression from Neanderthals and Denisovan has shaped modern human genomes; however, introgressed structural variants (SVs ≥50 base pairs) remain challenging to discover. We integrated high-quality phased assemblies from four new Papua New Guinea (PNG) genomes with 94 published assemblies of diverse ancestry to infer an archaic introgressed SV map. Introgressed SVs are overall enriched in genes (44%, n=1,592), including critical genomic disorder regions, and most abundant in PNG. We identify 11 centromeres likely derived from archaic hominins, adding unexplored diversity to centromere genomics. Pangenome genotyping across 1,363 samples reveals 16 candidate adaptive SVs, many associated with immune-related genes and their expression, in the PNG. We hypothesize that archaic SV introgression contributed to reproductive success, underscoring introgression as a significant force in human adaptive evolution.
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