C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility

[EN]Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. The synaptonemal complex is a ‘zipper’-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites int...

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Autores: Gómez Hernández, Laura, Felipe-Medina, Natalia, Sánchez Martín, Manuel Adolfo, Davies, Owen R., Ramos, Isabel, García-Tuñón, Ignacio, de Rooij, Dirk G., Dereli, Ihsan, Tóth, Attila, Barbero, José Luis, Benavente, Ricardo, Llano Cuadra, María Elena, Martín Pendás, Alberto
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2016
País:España
Institución:Universidad de Salamanca (USAL)
Repositorio:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:gredos.usal.es:10366/143908
Acceso en línea:http://hdl.handle.net/10366/143908
Access Level:acceso abierto
Palabra clave:Chromosomes
Meiosis
Spermatogenesis
2415 Biología Molecular
meiosis
cromosomas
espermatogénesis
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spelling C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertilityGómez Hernández, LauraFelipe-Medina, NataliaSánchez Martín, Manuel AdolfoDavies, Owen R.Ramos, IsabelGarcía-Tuñón, Ignaciode Rooij, Dirk G.Dereli, IhsanTóth, AttilaBarbero, José LuisBenavente, RicardoLlano Cuadra, María ElenaMartín Pendás, AlbertoChromosomesMeiosisSpermatogenesisSpermatogenesisMeiosisChromosomes2415 Biología Molecularmeiosiscromosomasespermatogénesis[EN]Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. The synaptonemal complex is a ‘zipper’-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites into crossovers. Humans show individual differences in the number of crossovers generated across the genome. Recently, an anonymous gene variant in C14ORF39/SIX6OS1 was identified that influences the recombination rate in humans. Here we show that C14ORF39/SIX6OS1 encodes a component of the central element of the synaptonemal complex. Yeast two-hybrid analysis reveals that SIX6OS1 interacts with the well-established protein synaptonemal complex central element 1 (SYCE1). Mice lacking SIX6OS1 are defective in chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage and results in infertility. In accordance with its role as a modifier of the human recombination rate, SIX6OS1 is essential for the appropriate processing of intermediate recombination nodules before crossover formation.This work was supported by BFU_2014-59307-R, MEIONet and JCyLe (CSI052U16). LGH and NFM are supported by European Social Fund/JCyLe grants (EDU/1083/2013 and EDU/310/2015). ORD is a Sir Henry Dale Fellow jointly funded by the Wellcome Trust and Royal Society (Grant Number 104158/Z/14/Z). RB is funded by DFG (grant Be1168/8-1). AT and ID were supported by DFG grants TO421/8-2 and TO421/6-1, respectively.Nature Publishing Group (Londres, Gran Bretaña)202020202016info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10366/143908reponame:GREDOS. Repositorio Institucional de la Universidad de Salamancainstname:Universidad de Salamanca (USAL)InglésMINECO/ICTI2013-2016/BFU2014-59307-RAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:gredos.usal.es:10366/1439082026-06-07T06:28:51Z
dc.title.none.fl_str_mv C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
title C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
spellingShingle C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
Gómez Hernández, Laura
Chromosomes
Meiosis
Spermatogenesis
Spermatogenesis
Meiosis
Chromosomes
2415 Biología Molecular
meiosis
cromosomas
espermatogénesis
title_short C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
title_full C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
title_fullStr C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
title_full_unstemmed C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
title_sort C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
dc.creator.none.fl_str_mv Gómez Hernández, Laura
Felipe-Medina, Natalia
Sánchez Martín, Manuel Adolfo
Davies, Owen R.
Ramos, Isabel
García-Tuñón, Ignacio
de Rooij, Dirk G.
Dereli, Ihsan
Tóth, Attila
Barbero, José Luis
Benavente, Ricardo
Llano Cuadra, María Elena
Martín Pendás, Alberto
author Gómez Hernández, Laura
author_facet Gómez Hernández, Laura
Felipe-Medina, Natalia
Sánchez Martín, Manuel Adolfo
Davies, Owen R.
Ramos, Isabel
García-Tuñón, Ignacio
de Rooij, Dirk G.
Dereli, Ihsan
Tóth, Attila
Barbero, José Luis
Benavente, Ricardo
Llano Cuadra, María Elena
Martín Pendás, Alberto
author_role author
author2 Felipe-Medina, Natalia
Sánchez Martín, Manuel Adolfo
Davies, Owen R.
Ramos, Isabel
García-Tuñón, Ignacio
de Rooij, Dirk G.
Dereli, Ihsan
Tóth, Attila
Barbero, José Luis
Benavente, Ricardo
Llano Cuadra, María Elena
Martín Pendás, Alberto
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Chromosomes
Meiosis
Spermatogenesis
Spermatogenesis
Meiosis
Chromosomes
2415 Biología Molecular
meiosis
cromosomas
espermatogénesis
topic Chromosomes
Meiosis
Spermatogenesis
Spermatogenesis
Meiosis
Chromosomes
2415 Biología Molecular
meiosis
cromosomas
espermatogénesis
description [EN]Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. The synaptonemal complex is a ‘zipper’-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites into crossovers. Humans show individual differences in the number of crossovers generated across the genome. Recently, an anonymous gene variant in C14ORF39/SIX6OS1 was identified that influences the recombination rate in humans. Here we show that C14ORF39/SIX6OS1 encodes a component of the central element of the synaptonemal complex. Yeast two-hybrid analysis reveals that SIX6OS1 interacts with the well-established protein synaptonemal complex central element 1 (SYCE1). Mice lacking SIX6OS1 are defective in chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage and results in infertility. In accordance with its role as a modifier of the human recombination rate, SIX6OS1 is essential for the appropriate processing of intermediate recombination nodules before crossover formation.
publishDate 2016
dc.date.none.fl_str_mv 2016
2020
2020
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/10366/143908
url http://hdl.handle.net/10366/143908
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv MINECO/ICTI2013-2016/BFU2014-59307-R
dc.rights.none.fl_str_mv Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group (Londres, Gran Bretaña)
publisher.none.fl_str_mv Nature Publishing Group (Londres, Gran Bretaña)
dc.source.none.fl_str_mv reponame:GREDOS. Repositorio Institucional de la Universidad de Salamanca
instname:Universidad de Salamanca (USAL)
instname_str Universidad de Salamanca (USAL)
reponame_str GREDOS. Repositorio Institucional de la Universidad de Salamanca
collection GREDOS. Repositorio Institucional de la Universidad de Salamanca
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869422068484800512
score 15.300724

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