Chromosomal Inversions between Human and Chimpanzee Lineages Caused by Retrotransposons

摘要: The long interspersed element-1 (LINE-1 or L1) and Alu elements are the most abundant mobile comprising 21% 11% of human genome, respectively. Since divergence chimpanzee lineages, these have vigorously created chromosomal rearrangements causing genomic difference between humans chimpanzees by either increasing decreasing size genome. Here, we report an exotic mechanism, retrotransposon recombination-mediated inversion (RRMI), that usually does not alter amount material present. Through comparison draft genome sequences, identified 252 inversions whose respective junctions can clearly be characterized. Our results suggest L1 cause forming a secondary structure providing fragile site for double-strand breaks. detailed analysis breakpoints showed responsible at least 44% loci including 49 RRMI loci. Among them, three inverted exonic regions in known genes, which implicates this mechanism generating phenotypic differences lineages. This study is first comprehensive element bases highlights their role primate evolution.