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Mutation of the Mouse Syce1 Gene Disrupts Synapsis and Suggests a Link between Synaptonemal Complex Structural Components and DNA Repair

Authors
Journal
PLoS Genetics
1553-7390
Publisher
Public Library of Science
Publication Date
Volume
5
Issue
2
Identifiers
DOI: 10.1371/journal.pgen.1000393
Keywords
  • Research Article
  • Cell Biology
  • Developmental Biology/Germ Cells
  • Genetics And Genomics/Chromosome Biology
Disciplines
  • Biology
  • Chemistry
  • Medicine

Abstract

Author Summary Production of sperm and eggs, also known as gametes, requires a reduction in the number of copies of the genome, from the two found in most cells of the body to the single copy found in gametes. This is a complex process, made even more complex because it is coupled with recombination, a process that is an important contributor to genetic diversity. Mammals and many other organisms achieve reduction and recombination through a process called meiosis, which is recognisable by the presence of a distinctive structure—the synaptonemal complex—that links the chromosomes together and is essential for meiosis to complete. We have made mice that lack SYCE1, a protein component of the synaptonemal complex. In these animals, meiosis is blocked at a particular stage, and this has allowed us to detect co-localisation and interactions—likely indirect—between enzymes involved in recombination and structural proteins involved in meiosis. This provides a starting point to understand in biochemical detail the protein links between structure and function in meiosis. Mutations or variants in the genes encoding such proteins are likely contributors to variations in fertility and to abnormalities in chromosome number.

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