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C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
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C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
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Journal Article
C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
2016
Overview
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.
The synaptonemal complex is a meiosis-specific proteinaceous structure that supports homologous chromosome pairs during meiosis. Here, the authors show that SIX6OS1 (of previously unknown function) is part of the synaptonemal complex central element and upon deletion in mice, causes defective chromosome synapsis and infertility.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 64
/ 64/110
/ 64/60
/ 82
/ 82/1
/ Animals
/ Cell Cycle Proteins - genetics
/ Cell Cycle Proteins - metabolism
/ Chromosomal Proteins, Non-Histone - genetics
/ Chromosomal Proteins, Non-Histone - metabolism
/ Female
/ Genes
/ Genome
/ Genomes
/ Haploidy
/ Humanities and Social Sciences
/ Humans
/ Male
/ Meiosis
/ Mice
/ Nuclear Proteins - metabolism
/ Proteins
/ Science
/ Synaptonemal Complex - metabolism
/ Two-Hybrid System Techniques
/ Yeast
/ Yeasts
