Identification and functional characterization of SIX6OS1, a novel central element of the synaptonemal complex associated with genome-wide recombination rate
Ponente: Laura Gómez
Centro de Investigación del Cáncer, laboratorio 9
Fecha: 29/06/2017 - 29/06/2017
Salón de actos del CIC
Meiotic recombination generates crossovers between homologous chromosomes which are essential for genome haploidization. Humans show individual differences in the number of crossovers generated across the genome. The synaptonemal complex (SC) is a 'zipper'-like structure that synapses homologue pairs and provides the structural framework for processing recombination sites into crossovers. Recently there have been identified several SNP variants influencing human recombination rate, among them, an anonymous gene variant on chromosome 14 (C14ORF39). This gene codifies a novel component of the central element of the synaptonemal complex, SIX6OS1, that interacts with the well-established synaptonemal complex central element 1 (SYCE1). Structurally, by homology modeling SIX6OS1 shows a repeated linear repeats of triple helical bundle and suggests to act as a structural linker of the SC. Mice lacking this central element are defective in homologous chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage that results in infertility. In accordance with it being a modifier of the recombination rate in humans, it is essential for the appropriate processing of intermediate recombination nodules immediately prior to reciprocal recombination and crossover formation.