Toggle Main Menu Toggle Search

Open Access padlockePrints

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

Lookup NU author(s): Dr Owen Davies

Downloads


Licence

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


Abstract

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

URL: http://dx.doi.org/10.1038/ncomms13298

DOI: 10.1038/ncomms13298


Altmetrics

Altmetrics provided by Altmetric


Funding

Funder referenceFunder name
MEIONet
Wellcome Trust
104158/Z/14/ZRoyal Society
CSI052U16JCyLe
EDU/1083/2013European Social Fund/JCyLe
Be1168/8-1DFG
BFU_2014-59307-R
EDU/310/2015European Social Fund/JCyLe
TO421/6-1DFG
TO421/8-2DFG

Share