Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death

Magalie Vatin, Gaetan Burgio, Gilles Renault, Paul Laissue, Virginie Firlej, Françoise Mondon, Xavier Montagutelli, Daniel Vaiman, Catherine Serres, Ahmed Ziyyat

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Recurrent spontaneous abortion (RSA) is defined as the loss of three or more consecutive pregnancies during the first trimester of embryonic intrauterine development. This kind of human infertility is frequent among the general population since it affects 1 to 5% of women. In half of the cases the etiology remains unelucidated. In the present study, we used interspecific recombinant congenic mouse strains (IRCS) in the aim to identify genes responsible for embryonic lethality. Applying a cartographic approach using a genotype/phenotype association, we identified a minimal QTL region, of about 6 Mb on chromosome 1, responsible for a high rate of embryonic death (~30%). Genetic analysis suggests that the observed phenotype is linked to uterine dysfunction. Transcriptomic analysis of the uterine tissue revealed a preferential deregulation of genes of this region compared to the rest of the genome. Some genes from the QTL region are associated with VEGF signaling, mTOR signaling and ubiquitine/proteasome-protein degradation pathways. This work may contribute to elucidate the molecular basis of a multifactorial and complex human disorder as RSA. © 2012 Vatin et al.
Original languageEnglish (US)
Article numbere43356
Pages (from-to)1-13
Number of pages13
JournalPLoS One
Issue number8
StatePublished - Aug 16 2012


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