Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marquès i Bonet, Tomàs, 1975-; Saijadian, Saba; Graves, Tina A.; Hormozdiari, Fereydoun; Navarro i Cuartiellas, Arcadi, 1969-; 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

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dc.contributor.author Ventura, Marioca
dc.contributor.author Catacchio, Claudia R.ca
dc.contributor.author Alkan, Canca
dc.contributor.author Marquès i Bonet, Tomàs, 1975-ca
dc.contributor.author Saijadian, Sabaca
dc.contributor.author Graves, Tina A.ca
dc.contributor.author Hormozdiari, Fereydounca
dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-ca
dc.contributor.author Malig, Maikaca
dc.contributor.author Baker, Carlca
dc.contributor.author Lee, Cholica
dc.contributor.author Turner, Emily H.ca
dc.contributor.author Chen, Linca
dc.contributor.author Kidd, Jeffrey M.ca
dc.contributor.author Archidiacono, Nicolettaca
dc.contributor.author Shendure, Jayca
dc.contributor.author Wilson, Richard K.ca
dc.contributor.author Eichler, Evan E.ca
dc.date.accessioned 2013-04-03T09:17:40Z
dc.date.available 2013-04-03T09:17:40Z
dc.date.issued 2011ca
dc.description.abstract 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.
dc.description.sponsorship This work was supported,/nin part, by the European FP7 (MC/StGr 2010)
dc.format.mimetype application/pdfca
dc.identifier.citation Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA et al. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Res. 2011;21(10):1640-9. DOI: 10.1101/gr.124461.111ca
dc.identifier.doi http://dx.doi.org/10.1101/gr.124461.111
dc.identifier.issn 1088-9051ca
dc.identifier.uri http://hdl.handle.net/10230/20529
dc.language.iso engca
dc.publisher Cold Spring Harbor Laboratory Press-CSHL Pressca
dc.relation.ispartof Genome Research. 2011;21(10):1640-9
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/260372
dc.rights.accessRights info:eu-repo/semantics/openAccessca
dc.rights.uri http://creativecommons.org/licenses/by/3.0/
dc.subject.other Goril·les -- Genètica
dc.subject.other Ximpanzés -- Genètica
dc.subject.other Genètica humana
dc.title Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzeeca
dc.type info:eu-repo/semantics/articleca
dc.type.version info:eu-repo/semantics/publishedVersionca

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