The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
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- dc.contributor.author Ventura, Marioca
- dc.contributor.author Catacchio, Claudia R.ca
- dc.contributor.author Saijadian, Sabaca
- dc.contributor.author Vives, Lauraca
- dc.contributor.author Sudmant, Peter H.ca
- dc.contributor.author Marquès i Bonet, Tomàs, 1975-ca
- dc.contributor.author Graves, Tina A.ca
- dc.contributor.author Wilson, Richard K.ca
- dc.contributor.author Eichler, Evan E.ca
- dc.date.accessioned 2015-06-09T08:11:06Z
- dc.date.available 2015-06-09T08:11:06Z
- dc.date.issued 2012ca
- dc.description.abstract Chimpanzee and gorilla chromosomes differ from human chromosomes by the presence of large blocks of subterminal heterochromatin thought to be composed primarily of arrays of tandem satellite sequence. We explore their sequence composition and organization and show a complex organization composed of specific sets of segmental duplications that have hyperexpanded in concert with the formation of subterminal satellites. These regions are highly copy number polymorphic between and within species, and copy number differences involving hundreds of copies can be accurately estimated by assaying read-depth of next-generation sequencing data sets. Phylogenetic and comparative genomic analyses suggest that the structures have arisen largely independently in the two lineages with the exception of a few seed sequences present in the common ancestor of humans and African apes. We propose a model where an ancestral human-chimpanzee pericentric inversion and the ancestral chromosome 2 fusion both predisposed and protected the chimpanzee and human genomes, respectively, to the formation of subtelomeric heterochromatin. Our findings highlight the complex interplay between duplicated sequences and chromosomal rearrangements that rapidly alter the cytogenetic landscape in a short period of evolutionary time.en
- dc.description.sponsorship This work was supported, in part, by NIH grants HG002385 and GM058815 to E.E.E. and NIH grant U54 HG003079 to R.K.W. P.H.S. is supported by a Howard Hughes Medical Institute International Student Fellowship. E.E.E. is an investigator of the Howard Hughes Medical Instituteen
- dc.format.mimetype application/pdfca
- dc.identifier.citation Ventura M, Catacchio CR, Sajjadian S, Vives L, Sudmant PH, Marquès-Bonet T et al. The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. Genome Research. 2012;22:1036-49. DOI 10.1101/gr.136556.111ca
- dc.identifier.doi http://dx.doi.org/10.1101/gr.136556.111
- dc.identifier.issn 1088-9051ca
- dc.identifier.uri http://hdl.handle.net/10230/23774
- dc.language.iso engca
- dc.publisher Cold Spring Harbor Laboratory Press (CSHL Press)ca
- dc.relation.ispartof Genome Research. 2012;22:1036-49
- dc.rights This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported), as described at http://creativecommons.org/licenses/by-nc/3.0/.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.rights.uri http://creativecommons.org/licenses/by-nc/3.0/
- dc.subject.other Heterocromatinaca
- dc.subject.other Regulació cel·lularca
- dc.subject.other Seqüència d'aminoàcidsca
- dc.title The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2ca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersion