Understanding the recent evolution of the human genome : insights from human-chimpanzee genome comparisons

摘要: The sequencing of the chimpanzee genome and comparison with its human counterpart have begun to reveal spectrum genetic changes that has accompanied evolution. In addition gross karyotypic rearrangements such as fusion formed chromosome 2 human-specific pericentric inversions chromosomes 1 18, there is considerable submicroscopic structural variation involving deletions, duplications, inversions. Lineage-specific segmental detected by array comparative genomic hybridization direct sequence comparison, made a very significant contribution this divergence, which at least three-fold greater than due nucleotide substitutions. Since may given rise irreversible functional differences between diverging species, their detailed analysis could help identify biological processes speciation. To end, interspecies comparisons revealed numerous gains losses genes well in gene expression. diversity (polymorphism) evident within both lineages has, however, hampered divergence genomes. concomitant evaluation level nevertheless served many evolved under positive selection thus been involved development lineage-specific traits. Genes display signs weak negative also identified represent candidate loci for complex disorders. Here, we review recent progress comparing genomes discuss how improved our understanding evolution genome. Hum Mutat 28(2), 99–130, 2007. © 2006 Wiley-Liss, Inc.