79903 Journal Article.pdf (406.16 kB)
Refined mapping of a Quantitative Trait Locus on Chromosome 1 responsible for mouse embryonic death
journal contribution
posted on 2023-05-17, 13:29 authored by Vatin, M, Burgio, G, Renault, G, Laissue, P, Firlej, V, Mondon, F, Montagutelli, X, Vaiman, D, Serres, C, Ziyyat, ARecurrent 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.
History
Publication title
PLoS OneVolume
7Issue
8Article number
e43356Number
e43356Pagination
1-13ISSN
1932-6203Department/School
Menzies Institute for Medical ResearchPublisher
Public Library of SciencePlace of publication
United StatesRights statement
Licenced under Creative Commons Attribution 2.5 Generic (CC BY 2.5) http://creativecommons.org/licenses/by/2.5/Repository Status
- Open