A global map for introgressed structural variation and selection in humans

• 成果类型: Article
• 署名作者: Hsieh, PingHsun; Soisangwan, Natthapon; Gordon, David S.; Javidh, Athef; Harvey, William T.; Porubsky, David; Hoekzema, Kendra; Baker, Carl; Munson, Katherine M.; Kinipi, Christopher; Leavesley, Matthew; Brucato, Nicolas; Cox, Murray P.; Ricaut, Francois-X; Romero, Irene Gallego; Eichler, Evan E.
• 署名单位: University of Minnesota System; University of Minnesota Twin Cities; University of Minnesota System; University of Minnesota Twin Cities; University of Minnesota System; University of Minnesota Twin Cities; University of Washington; University of Washington Seattle; European Molecular Biology Laboratory (EMBL); University of Papua New Guinea; James Cook University; James Cook University; Institut de Recherche pour le Developpement (IRD); Centre National de la Recherche Scientifique (CNRS); Communaute d'universites et etablissements de Toulouse (Comue); Universite de Toulouse (EPE); Institut National Polytechnique de Toulouse; Massey University; University of Auckland; St. Vincent's Institute of Medical Research; University of Tartu; University of Melbourne; Howard Hughes Medical Institute; University of Washington; University of Washington Seattle
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-8075; 1095-9203
• DOI: 10.1126/science.adz7518
• 发表日期: 2026-06-11
• 页码: eadz7518
• 关键词: coverage neanderthal genome; population history; GENE DELETION; adaptation; sequence; protein; dna; EVOLUTION; inference

摘要

Genetic introgression from Neanderthals and Denisovans 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) haploid genomes with 94 published assemblies of diverse ancestry to infer an introgressed SV map. Introgressed SVs are enriched in genes (47%), including critical genomic disorder regions, and are most abundant in PNG genomes. We identified 11 centromeres likely derived from archaic hominins, adding unexplored diversity to centromere genomics. Pangenome genotyping of these 98 assemblies across 1363 samples revealed 16 adaptive SVs, many associated with immune-related genes and expression, in the PNG genomes. We hypothesize that archaic SVs contributed to reproductive success, underscoring introgression as a major force in human adaptive evolution.