Altered Cohesin Gene Dosage Affects Mammalian Meiotic Chromosome Structure and Behavior

Brenda Murdoch, Nichole Owen, Michelle Stevense, Helen Smith, So Nagaoka, Terry Hassold, Michael McKay, Huiling Xu, Jun Fu, Ekaterina Revenkova, Rolf Jessberger, Patricia Hunt

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


Based on studies in mice and humans, cohesin loss from chromosomes during the period of protracted meiotic arrest appears to play a major role in chromosome segregation errors during female meiosis. In mice, mutations in meiosis-specific cohesin genes cause meiotic disturbances and infertility. However, the more clinically relevant situation, heterozygosity for mutations in these genes, has not been evaluated. We report here evidence from the mouse that partial loss of gene function for either Smc1b or Rec8 causes perturbations in the formation of the synaptonemal complex (SC) and affects both synapsis and recombination between homologs during meiotic prophase. Importantly, these defects increase the frequency of chromosomally abnormal eggs in the adult female. These findings have important implications for humans: they suggest that women who carry mutations or variants that affect cohesin function have an elevated risk of aneuploid pregnancies and may even be at increased risk of transmitting structural chromosome abnormalities.

Original languageEnglish
Article numbere1003241
JournalPLoS Genetics
Issue number2
StatePublished - Feb 2013
Externally publishedYes


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