Multispecies pangenomes reveal a pervasive influence of population size on structural variation
作者
SCOTT V. EDWARDS,Bohao Fang,Danielle Khost,George E. Kolyfetis,Rebecca G. Cheek,Devon A. DeRaad,Nancy Chen,John W. Fitzpatrick,John E. McCormack,W. Chris Funk,Cameron K. Ghalambor,Erik Garrison,Andrea Guarracino,Heng Li,Timothy B. Sackton
出处
期刊:Science [American Association for the Advancement of Science (AAAS)] 日期:2025-12-11卷期号:390 (6778)
标识
DOI:10.1126/science.adw1931
摘要
Structural variants (SVs) are widespread in vertebrate genomes, yet their evolutionary dynamics remain poorly understood. Using 45 long-read de novo genome assemblies and pangenome tools, we analyze SVs among three closely related species of North American jays ( Aphelocoma , scrub-jays) displaying a 55-fold range in effective population size. We find rapid evolution of genome architecture, including ~100-megabase decreases in genome size driven by shifts in complex satellite landscapes. SVs exhibit slightly deleterious dynamics modulated by variant length and population size, with consistent evidence of adaptive fixation only in the largest population. Gene copy number variants exhibit an inverse relationship with population size, indicating strongly deleterious dynamics, with consequences for gene expression. Our long-read dataset and pangenome analysis demonstrate how population size shapes genome complexity.