Hotspots for copy number variation in chimpanzees and humans Export

@article{citeulike:667832, abstract = {Copy number variation is surprisingly common among humans and can be involved in phenotypic diversity and variable susceptibility to complex diseases, but little is known of the extent of copy number variation in nonhuman primates. We have used two array-based comparative genomic hybridization platforms to identify a total of 355 copy number variants (CNVs) in the genomes of 20 wild-born chimpanzees (Pan troglodytes) and have compared the identified chimpanzee CNVs to known human CNVs from previous studies. Many CNVs were observed in the corresponding regions in both chimpanzees and humans; especially those CNVs of higher frequency. Strikingly, these loci are enriched 20-fold for ancestral segmental duplications, which may facilitate CNV formation through nonallelic homologous recombination mechanisms. Therefore, some of these regions may be unstable "hotspots" for the genesis of copy number variation, with recurrent duplications and deletions occurring across and within species. 10.1073/pnas.0602318103}, author = {Perry, George H. and Tchinda, Joelle and Mcgrath, Sean D. and Zhang, Junjun and Picker, Simon R. and Caceres, Angela M. and Iafrate, John A. and Tyler-Smith, Chris and Scherer, Stephen W. and Eichler, Evan E. and Stone, Anne C. and Lee, Charles}, citeulike-article-id = {667832}, citeulike-linkout-0 = {http://dx.doi.org/10.1073/pnas.0602318103}, citeulike-linkout-1 = {http://www.pnas.org/content/103/21/8006.abstract}, citeulike-linkout-2 = {http://www.pnas.org/content/103/21/8006.full.pdf}, citeulike-linkout-3 = {http://www.pnas.org/cgi/content/abstract/103/21/8006}, citeulike-linkout-4 = {http://view.ncbi.nlm.nih.gov/pubmed/16702545}, citeulike-linkout-5 = {http://www.hubmed.org/display.cgi?uids=16702545}, doi = {10.1073/pnas.0602318103}, journal = {PNAS}, keywords = {evolution-primate, gene\_copy\_number}, month = {May}, number = {21}, pages = {8006--8011}, posted-at = {2006-05-27 20:22:28}, priority = {2}, title = {Hotspots for copy number variation in chimpanzees and humans}, url = {http://dx.doi.org/10.1073/pnas.0602318103}, volume = {103}, year = {2006} }

TY - JOUR ID - citeulike:667832 L3 - citeulike-article-id:667832 N2 - Copy number variation is surprisingly common among humans and can be involved in phenotypic diversity and variable susceptibility to complex diseases, but little is known of the extent of copy number variation in nonhuman primates. We have used two array-based comparative genomic hybridization platforms to identify a total of 355 copy number variants (CNVs) in the genomes of 20 wild-born chimpanzees (Pan troglodytes) and have compared the identified chimpanzee CNVs to known human CNVs from previous studies. Many CNVs were observed in the corresponding regions in both chimpanzees and humans; especially those CNVs of higher frequency. Strikingly, these loci are enriched 20-fold for ancestral segmental duplications, which may facilitate CNV formation through nonallelic homologous recombination mechanisms. Therefore, some of these regions may be unstable "hotspots" for the genesis of copy number variation, with recurrent duplications and deletions occurring across and within species. 10.1073/pnas.0602318103 IS - 21 JF - PNAS EP - 8011 TI - Hotspots for copy number variation in chimpanzees and humans VL - 103 SP - 8006 KW - evolution-primate KW - gene_copy_number AU - Perry, George AU - Tchinda, Joelle AU - Mcgrath, Sean AU - Zhang, Junjun AU - Picker, Simon AU - Caceres, Angela AU - Iafrate, John AU - Tyler-Smith, Chris AU - Scherer, Stephen AU - Eichler, Evan AU - Stone, Anne AU - Lee, Charles PY - 2006/05/23/ UR - http://dx.doi.org/10.1073/pnas.0602318103 ER -