difference between human and chimpanzee hand

This method has been used to reliably identify insertions, deletions, and inversions between a single human individual and the human reference assembly with high (>8 kb) resolution ( Tuzun et al. Given sufficient coverage, the presence of multiple fosmid pairs discordant by size or by orientation provides a useful metric to identify sites of structural variation. These properties result in both genomic fidelity of inserts as well as a tight distribution of insert size around the mean. The power of this approach stems from the stability and packaging constraints of the fosmid vector.

Recently we developed a method for the systematic characterization of intermediate-sized structural variation (ISV) by optimal placement of fosmid paired-end sequences against the human genome reference sequence ( Tuzun et al. A systematic analysis that considers insertions, deletions, and inversions, however, has not been performed. 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). At the sequence level, single-base-pair nucleotide substitutions have been surveyed between these primate genomes and estimated to account for a 1.2% nucleotide difference between humans and chimpanzees ( Kumar and Hedges 1998 Eichler et al. 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 ( Lejeune et al. In particular, the whole or partial deletion of genes has been proposed as one of the primary forces responsible for human evolution ( Olson 1999). Sites of structural variation (SVs) have considerable potential to impart both functional and irreversible difference between evolving species. Furthermore, this work prioritizes regions for further finishing in the chimpanzee genome and provides a resource for interrogating functional differences between humans and chimpanzees. Compared with the pioneering work of Yunis, Prakash, Dutrillaux, and Lejeune, this analysis expands the number of potential rearrangements between chimpanzees and humans 50-fold. Seventeen of these genes contain exons missing in the chimpanzee genomic sequence and also show a significant reduction in gene expression in chimpanzee. These structural variants encompass at least 24 Mb of DNA and overlap with >245 genes. The events are distributed throughout the genome on all chromosomes but are highly correlated with sites of segmental duplication in human and chimpanzee. We validated a subset (19/23) of insertion and deletions using PCR and Southern blot assays, confirming the accuracy of our method. Our analysis yielded a total of 651 putative sites of chimpanzee deletion (n = 293), insertions (n = 184), and rearrangements consistent with local inversions between the two genomes (n = 174). To circumvent this, we applied a method to optimally map chimpanzee fosmid paired-end sequences against the human genome to systematically identify sites of structural variation ≥12 kb between the two species. The low-quality nature of the current chimpanzee genome assembly precludes the reliable identification of many of these differences.

Structural changes (deletions, insertions, and inversions) between human and chimpanzee genomes have likely had a significant impact on lineage-specific evolution because of their potential for dramatic and irreversible mutation.

Difference between human and chimpanzee hand