Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched for this form of genetic variation. Here, we set out to assess the extent of structural variation in the gorilla lineage by generating 10-fold genomic sequence coverage from a western lowland gorilla and integrating these data into a physical and cytogenetic framework of structural variation. We discovered and validated over 7665 structural changes within the gorilla lineage, including sequence resolution of inversions, deletions, duplications, and mobile element insertions. A comparison with human and other ape genomes shows that the gorilla genome has been subjected to the highest rate of segmental duplication. We show that both the gorilla and chimpanzee genomes have experienced independent yet convergent patterns of structural mutation that have not occurred in humans, including the formation of subtelomeric heterochromatic caps, the hyperexpansion of segmental duplications, and bursts of retroviral integrations. Our analysis suggests that the chimpanzee and gorilla genomes are structurally more derived than either orangutan or human genomes. © 2011 by Cold Spring Harbor Laboratory Press.
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Cold Spring Harbor Laboratory Press
2011-06
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Online Access: | http://hdl.handle.net/10261/50535 http://dx.doi.org/10.13039/100000002 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/501100000780 |
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dig-ibe-es-10261-505352021-12-28T16:49:30Z Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee Ventura, Mario Catacchio, Claudia R. Alkan, Can Marqués-Bonet, Tomàs Sajjadian, Saba Graves, Tina A. Hormozdiari, Fereydoun Navarro, Arcadi Malig, Maika Baker, Carl Lee, Choli Turner, Emily H. Chen, Lin Kidd, Jeffrey M. Archidiacono, Nicoletta Shendure, Jay Wilson, Richard K. Eichler, Evan E. National Institutes of Health (US) Ministerio de Ciencia e Innovación (España) Instituto Nacional de Bioinformática (España) European Commission Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched for this form of genetic variation. Here, we set out to assess the extent of structural variation in the gorilla lineage by generating 10-fold genomic sequence coverage from a western lowland gorilla and integrating these data into a physical and cytogenetic framework of structural variation. We discovered and validated over 7665 structural changes within the gorilla lineage, including sequence resolution of inversions, deletions, duplications, and mobile element insertions. A comparison with human and other ape genomes shows that the gorilla genome has been subjected to the highest rate of segmental duplication. We show that both the gorilla and chimpanzee genomes have experienced independent yet convergent patterns of structural mutation that have not occurred in humans, including the formation of subtelomeric heterochromatic caps, the hyperexpansion of segmental duplications, and bursts of retroviral integrations. Our analysis suggests that the chimpanzee and gorilla genomes are structurally more derived than either orangutan or human genomes. © 2011 by Cold Spring Harbor Laboratory Press. This work was supported, in part, by an NIH grant HG002385 to E.E.E. and NIH grant U54 HG003079 to R.K.W. Financial support was provided by the Spanish Ministry of Science and Innovation (Grant BFU2009-13409-C02-02) and the Spanish National Institute for Bioinformatics (INB, www.inab.org) to A.N. T.M-B. is supported by a Ramon y Cajal program (MICINN-RYC) and the European FP7 (MC/StGr 2010). Peer Reviewed 2012-05-31T12:12:31Z 2012-05-31T12:12:31Z 2011-06 2012-05-31T12:12:31Z artículo http://purl.org/coar/resource_type/c_6501 doi: 10.1101/gr.124461.111 issn: 1088-9051 Genome Research 21: 1640-1649 (2011) http://hdl.handle.net/10261/50535 10.1101/gr.124461.111 http://dx.doi.org/10.13039/100000002 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/501100000780 21685127 en Publisher's version http://dx.doi.org/10.1101/gr.124461.111 Sí open Cold Spring Harbor Laboratory Press |
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Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched for this form of genetic variation. Here, we set out to assess the extent of structural variation in the gorilla lineage by generating 10-fold genomic sequence coverage from a western lowland gorilla and integrating these data into a physical and cytogenetic framework of structural variation. We discovered and validated over 7665 structural changes within the gorilla lineage, including sequence resolution of inversions, deletions, duplications, and mobile element insertions. A comparison with human and other ape genomes shows that the gorilla genome has been subjected to the highest rate of segmental duplication. We show that both the gorilla and chimpanzee genomes have experienced independent yet convergent patterns of structural mutation that have not occurred in humans, including the formation of subtelomeric heterochromatic caps, the hyperexpansion of segmental duplications, and bursts of retroviral integrations. Our analysis suggests that the chimpanzee and gorilla genomes are structurally more derived than either orangutan or human genomes. © 2011 by Cold Spring Harbor Laboratory Press. |
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National Institutes of Health (US) |
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National Institutes of Health (US) Ventura, Mario Catacchio, Claudia R. Alkan, Can Marqués-Bonet, Tomàs Sajjadian, Saba Graves, Tina A. Hormozdiari, Fereydoun Navarro, Arcadi Malig, Maika Baker, Carl Lee, Choli Turner, Emily H. Chen, Lin Kidd, Jeffrey M. Archidiacono, Nicoletta Shendure, Jay Wilson, Richard K. Eichler, Evan E. |
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Ventura, Mario Catacchio, Claudia R. Alkan, Can Marqués-Bonet, Tomàs Sajjadian, Saba Graves, Tina A. Hormozdiari, Fereydoun Navarro, Arcadi Malig, Maika Baker, Carl Lee, Choli Turner, Emily H. Chen, Lin Kidd, Jeffrey M. Archidiacono, Nicoletta Shendure, Jay Wilson, Richard K. Eichler, Evan E. |
spellingShingle |
Ventura, Mario Catacchio, Claudia R. Alkan, Can Marqués-Bonet, Tomàs Sajjadian, Saba Graves, Tina A. Hormozdiari, Fereydoun Navarro, Arcadi Malig, Maika Baker, Carl Lee, Choli Turner, Emily H. Chen, Lin Kidd, Jeffrey M. Archidiacono, Nicoletta Shendure, Jay Wilson, Richard K. Eichler, Evan E. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
author_sort |
Ventura, Mario |
title |
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
title_short |
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
title_full |
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
title_fullStr |
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
title_full_unstemmed |
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
title_sort |
gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee |
publisher |
Cold Spring Harbor Laboratory Press |
publishDate |
2011-06 |
url |
http://hdl.handle.net/10261/50535 http://dx.doi.org/10.13039/100000002 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/501100000780 |
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