A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications |
| |
| Authors: | She Xinwei,Liu Ge,Ventura Mario,Zhao Shaying,Misceo Doriana,Roberto Roberta,Cardone Maria Francesca,Rocchi Mariano NISC Comparative Sequencing Program,Green Eric D,Archidiacano Nicoletta,Eichler Evan E |
| |
| Affiliation: | Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA. |
| |
| Abstract: | Compared with other sequenced animal genomes, human segmental duplications appear larger, more interspersed, and disproportionately represented as high-sequence identity alignments. Global sequence divergence estimates of human duplications have suggested an expansion relatively recently during hominoid evolution. Based on primate comparative sequence analysis of 37 unique duplication-transition regions, we establish a molecular clock for their divergence that shows a significant increase in their effective substitution rate when compared with unique genomic sequence. Fluorescent in situ hybridization (FISH) analyses from 1053 random nonhuman primate BACs indicate that great-ape species have been enriched for interspersed segmental duplications compared with representative Old World and New World monkeys. These findings support computational analyses that show a 12-fold excess of recent (>98%) intrachromosomal duplications when compared with duplications between nonhomologous chromosomes. These architectural shifts in genomic structure and elevated substitution rates have important implications for the emergence of new genes, gene-expression differences, and structural variation among humans and great apes. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
