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Identification and functional characterization of C14ORF39, a novel synaptonemal complex protein essential for meiotic recombination and mouse fertility

AuthorsFelipe-Medina, Natalia ; Gómez, Laura ; Sánchez-Martín, M.; Davies, Owen R.; Ramos, Isabel ; García-Tuñón, Ignacio; Rooij, Dirk G. de; Barbero, José Luis ; Benavente, Ricardo; Llano, Elena ; Pendás, Alberto M.
Issue Date2016
PublisherSociedad Española de Bioquímica y Biología Molecular
CitationXXXIX Congreso de la SEBBM (2016)
AbstractMeiotic recombination generates crossing over between homologous chromosomes which are essential for genome haploidization. Humans differ largely in the number of crossover across the genome. The synaptonemal complex (SC) provides the structural framework for synapsis and crossing over processing. Recently, one anonymous gene variant (C14ORF39) influencing human recombination rate was identified. Here, we show that C14ORF39 is a novel component of the central element of the synaptonemal complex that interacts with the well-known synaptonemal complex central element 1 (SYCE1). Structurally, by homology modeling C14ORF39 shows a repeated linear repeats of triple helical bundle and suggests to act as a structural linker of the SC. Mice lacking C14ORF39 are defective in synapsis of homologous chromosomes at meiotic prophase I which provokes an arrest at pachytene-like stage and consequently infertility. In agreement to be a modifier of recombination rate in humans, C14ORF39 is essential for the appropriate processing of intermediate recombination nodules just before reciprocal recombination and crossover take place.
DescriptionResumen del póster presentado al XXXIX Congreso de la Sociedad Española de Bioquímica y Biología Molecular, celebrado en Salamanca del 5 al 8 de septiembre de 2016.
Appears in Collections:(IBMCC) Comunicaciones congresos
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