title: Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee.
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.
authors.affiliation: Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.
authors.forename: Mario
authors.initials: M
authors.lastname: Ventura
authors.forename: Claudia R
authors.initials: CR
authors.lastname: Catacchio
authors.forename: Can
authors.initials: C
authors.lastname: Alkan
authors.forename: Tomas
authors.initials: T
authors.lastname: Marques-Bonet
authors.forename: Saba
authors.initials: S
authors.lastname: Sajjadian
authors.forename: Tina A
authors.initials: TA
authors.lastname: Graves
authors.forename: Fereydoun
authors.initials: F
authors.lastname: Hormozdiari
authors.forename: Arcadi
authors.initials: A
authors.lastname: Navarro
authors.forename: Maika
authors.initials: M
authors.lastname: Malig
authors.forename: Carl
authors.initials: C
authors.lastname: Baker
authors.forename: Choli
authors.initials: C
authors.lastname: Lee
authors.forename: Emily H
authors.initials: EH
authors.lastname: Turner
authors.forename: Lin
authors.initials: L
authors.lastname: Chen
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Kidd
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Archidiacono
authors.forename: Jay
authors.initials: J
authors.lastname: Shendure
authors.forename: Richard K
authors.initials: RK
authors.lastname: Wilson
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D022004:Chromosome Structures; D055028:Comparative Genomic Hybridization; D019143:Evolution, Molecular; D056914:Genomic Structural Variation; D006071:Gorilla gorilla / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics*; D056916:Segmental Duplications, Genomic; D017422:Sequence Analysis, DNA