该研究团队将来自他们新巴布亚新几内亚（PNG）单倍体基因组的高质量阶段性片段与94个已发表的不同祖先的片段整合在一起，以推断出一个渐进SV图谱。渗入的SV在基因中富集（47%），包括关键的基因组紊乱区域，在PNG基因组中最为丰富。研究小组确定了11个可能来自古人类的着丝粒，为着丝粒基因组学增加了未开发的多样性。对1363个样本中的98个组合进行泛基因组分型，发现PNG基因组中有16个适应性SVs，其中许多与免疫相关基因和表达相关。该课题组研究人员假设古老的SV有助于繁殖成功，强调了基因渗入是人类适应性进化的主要力量。
据了解，来自尼安德特人和丹尼索瓦人的基因渗入塑造了现代人的基因组；然而，渗入的结构变异（SVs≥50个碱基对）仍然难以发现。
附：英文原文
Title: A global map for introgressed structural variation and selection in humans
Author: PingHsun Hsieh, Natthapon Soisangwan, David S. Gordon, Athef Javidh, William T. Harvey, David Porubsky, Kendra Hoekzema, Carl Baker, Katherine M. Munson, Christopher Kinipi, Matthew Leavesley, Nicolas Brucato, Murray P. Cox, Franois‐X Ricaut, Irene Gallego Romero, Evan E. Eichler
Issue&Volume: 2026-06-11
Abstract: 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.
DOI: adz7518
Source: https://www.science.org/doi/10.1126/science.adz7518