The extent of variation affecting sequences larger than a few kb but too small to identify cytogenetically (15 kb in size) based on paired-end sequence analysis. 2004b The Chimpanzee Sequencing and Analysis Consortium 2005). Surveyed between these primate genomes and estimated to account for a 1.2% nucleotide difference between humans and chimpanzees At the sequence level, single-base-pair nucleotide substitutions have been 1980 Yunis and Prakash 1982), they are insensitive to submicroscopic changes. While cytogenetic comparisons of human and chimpanzee karyotypes have been effective in detecting large-scale (>5 Mb) SVs In particular, the whole or partial deletion of genes has been proposed as one of the primary forces responsibleįor human evolution ( Olson 1999). Sites of structural variation (SVs) have considerable potential to impart both functional and irreversible difference betweenĮvolving species. This work prioritizes regions for further finishing in the chimpanzee genome and provides a resource for interrogating functionalĭifferences between humans and chimpanzees. Lejeune, this analysis expands the number of potential rearrangements between chimpanzees and humans 50-fold. Compared with the pioneering work of Yunis, Prakash, Dutrillaux, and Significant reduction in gene expression in chimpanzee. Seventeen of these genes contain exons missing in the chimpanzee genomic sequence and also show a These structural variants encompass at least 24 Mb of DNA and With sites of segmental duplication in human and chimpanzee. The events are distributed throughout the genome on all chromosomes but are highly correlated We validated a subset (19/23) of insertion and deletions using PCR and Southern blot assays, confirming Of chimpanzee deletion (n = 293), insertions (n = 184), and rearrangements consistent with local inversions between the two Our analysis yielded a total of 651 putative sites Identify sites of structural variation ≥12 kb between the two species. This, we applied a method to optimally map chimpanzee fosmid paired-end sequences against the human genome to systematically Of the current chimpanzee genome assembly precludes the reliable identification of many of these differences. Impact on lineage-specific evolution because of their potential for dramatic and irreversible mutation. Structural changes (deletions, insertions, and inversions) between human and chimpanzee genomes have likely had a significant
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