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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Detalhes bibliográficos
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 documento: artigo
Estado:Versão publicada
Data de publicação:2016
País:España
Recursos:Universidad de Salamanca (USAL)
Repositório:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:gredos.usal.es:10366/143908
Acesso em linha:http://hdl.handle.net/10366/143908
Access Level:Acceso aberto
Palavra-chave:Chromosomes
Meiosis
Spermatogenesis
2415 Biología Molecular
meiosis
cromosomas
espermatogénesis
Descrição
Resumo:[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.

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