The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

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...

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Autores: Ventura, Mario, Catacchio, Claudia R., Saijadian, Saba, Vives, Laura, Sudmant, Peter H., Marquès i Bonet, Tomàs, 1975-, Graves, Tina A., Wilson, Richard K., Eichler, Evan E.
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2012
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/23774
Acesso em linha:http://hdl.handle.net/10230/23774
http://dx.doi.org/10.1101/gr.136556.111
Access Level:acceso abierto
Palavra-chave:Heterocromatina
Regulació cel·lular
Seqüència d&apos
aminoàcids
id ES_144c2bd504693bb75d45ce062c8eb3d5
oai_identifier_str oai:recercat.cat:10230/23774
network_acronym_str ES
network_name_str España
repository_id_str
spelling The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2Ventura, MarioCatacchio, Claudia R.Saijadian, SabaVives, LauraSudmant, Peter H.Marquès i Bonet, Tomàs, 1975-Graves, Tina A.Wilson, Richard K.Eichler, Evan E.HeterocromatinaRegulació cel·lularSeqüència d&aposaminoàcidsChimpanzee 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.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 InstituteCold Spring Harbor Laboratory Press (CSHL Press)201520152012info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/23774http://dx.doi.org/10.1101/gr.136556.111reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésGenome Research. 2012;22:1036-49This 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/.http://creativecommons.org/licenses/by-nc/3.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/237742026-05-29T05:05:01Z
dc.title.none.fl_str_mv The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
title The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
spellingShingle The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
Ventura, Mario
Heterocromatina
Regulació cel·lular
Seqüència d&apos
aminoàcids
title_short The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
title_full The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
title_fullStr The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
title_full_unstemmed The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
title_sort The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
dc.creator.none.fl_str_mv Ventura, Mario
Catacchio, Claudia R.
Saijadian, Saba
Vives, Laura
Sudmant, Peter H.
Marquès i Bonet, Tomàs, 1975-
Graves, Tina A.
Wilson, Richard K.
Eichler, Evan E.
author Ventura, Mario
author_facet Ventura, Mario
Catacchio, Claudia R.
Saijadian, Saba
Vives, Laura
Sudmant, Peter H.
Marquès i Bonet, Tomàs, 1975-
Graves, Tina A.
Wilson, Richard K.
Eichler, Evan E.
author_role author
author2 Catacchio, Claudia R.
Saijadian, Saba
Vives, Laura
Sudmant, Peter H.
Marquès i Bonet, Tomàs, 1975-
Graves, Tina A.
Wilson, Richard K.
Eichler, Evan E.
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Heterocromatina
Regulació cel·lular
Seqüència d&apos
aminoàcids
topic Heterocromatina
Regulació cel·lular
Seqüència d&apos
aminoàcids
description 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.
publishDate 2012
dc.date.none.fl_str_mv 2012
2015
2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/23774
http://dx.doi.org/10.1101/gr.136556.111
url http://hdl.handle.net/10230/23774
http://dx.doi.org/10.1101/gr.136556.111
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genome Research. 2012;22:1036-49
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc/3.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc/3.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Cold Spring Harbor Laboratory Press (CSHL Press)
publisher.none.fl_str_mv Cold Spring Harbor Laboratory Press (CSHL Press)
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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