2024-03-28T19:08:12Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/505352021-12-28T16:49:30Zcom_10261_9676com_10261_8col_10261_9677
2012-05-31T12:12:31Z
urn:hdl:10261/50535
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.
2012-05-31T12:12:31Z
2012-05-31T12:12:31Z
2011-06
2012-05-31T12:12:31Z
artículo
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
eng
Publisher's version
http://dx.doi.org/10.1101/gr.124461.111
Sí
http://creativecommons.org/licenses/by-nc/3.0/
openAccess
Cold Spring Harbor Laboratory Press