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

Lookup NU author(s): Dr Owen Davies



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Gomez L, Felipe-Medina N, Sanchez-Martin M, Davies OR, Ramos I, Garcia-Tunon I, de Rooij DG, Dereli I, Toth A, Barbero JL, Benavente R, Llano E, Pendas AM

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2016

Volume: 7

Online publication date: 31/10/2016

Acceptance date: 19/09/2016

Date deposited: 21/12/2016

ISSN (electronic): 2041-1723

Publisher: Nature Publishing Group


DOI: 10.1038/ncomms13298


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