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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1640-1649 |
| Number of pages | 10 |
| Journal | Genome Research |
| Volume | 21 |
| Issue number | 10 |
| DOIs | |
| State | Published - Oct 1 2011 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. / Ventura, Mario; Catacchio, Claudia R.; Alkan, Can; Marques-Bonet, Tomas; 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.
In: Genome Research, Vol. 21, No. 10, 01.10.2011, p. 1640-1649.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
AU - Ventura, Mario
AU - Catacchio, Claudia R.
AU - Alkan, Can
AU - Marques-Bonet, Tomas
AU - Sajjadian, Saba
AU - Graves, Tina A.
AU - Hormozdiari, Fereydoun
AU - Navarro, Arcadi
AU - Malig, Maika
AU - Baker, Carl
AU - Lee, Choli
AU - Turner, Emily H.
AU - Chen, Lin
AU - Kidd, Jeffrey M.
AU - Archidiacono, Nicoletta
AU - Shendure, Jay
AU - Wilson, Richard K.
AU - Eichler, Evan E.
PY - 2011/10/1
Y1 - 2011/10/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=80053472753&partnerID=8YFLogxK
U2 - 10.1101/gr.124461.111
DO - 10.1101/gr.124461.111
M3 - Article
C2 - 21685127
AN - SCOPUS:80053472753
VL - 21
SP - 1640
EP - 1649
JO - Genome Research
JF - Genome Research
SN - 1088-9051
IS - 10
ER -