Format

Send to

Choose Destination
Nat Commun. 2016 Oct 31;7:13298. doi: 10.1038/ncomms13298.

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

Author information

1
Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), 37007 Salamanca, Spain.
2
Departamento de Medicina, Universidad de Salamanca, 37007 Salamanca, Spain.
3
Transgenic Facility, Nucleus platform, Universidad de Salamanca, 37007 Salamanca, Spain.
4
Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
5
Reproductive Biology Group, Division of Developmental Biology, Department of Biology, Faculty of Science, Utrecht University, 3584CM Utrecht, The Netherlands.
6
Institute of Physiological Chemistry, Medical Faculty of TU Dresden, Fiedlerstrasse 42, 01307 Dresden, Germany.
7
Departamento de Biología Celular y Molecular, Centro de Investigaciones Biológicas (CSIC), Madrid 28040, Spain.
8
Department of Cell and Developmental Biology, Biocenter, University of Würzburg, D-97074 Würzburg, Germany.
9
Departamento de Fisiología y Farmacología, Universidad de Salamanca, 37007 Salamanca, Spain.

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.

PMID:
27796301
PMCID:
PMC5095591
DOI:
10.1038/ncomms13298
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center