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Refined mapping of a Quantitative Trait Locus on Chromosome 1 responsible for mouse embryonic death

Citation

Vatin, M and Burgio, G and Renault, G and Laissue, P and Firlej, V and Mondon, F and Montagutelli, X and Vaiman, D and Serres, C and Ziyyat, A, Refined mapping of a Quantitative Trait Locus on Chromosome 1 responsible for mouse embryonic death, PLoS One, 7, (8) Article e43356. ISSN 1932-6203 (2012) [Refereed Article]


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Licenced under Creative Commons Attribution 2.5 Generic (CC BY 2.5) http://creativecommons.org/licenses/by/2.5/

DOI: doi:10.1371/journal.pone.0043356

Abstract

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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Paediatrics and Reproductive Medicine
Research Field:Reproduction
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Urogenital System and Disorders
Author:Burgio, G (Dr Gaetan Burgio)
ID Code:79903
Year Published:2012
Web of Science® Times Cited:6
Deposited By:Menzies Institute for Medical Research
Deposited On:2012-10-11
Last Modified:2013-04-17
Downloads:213 View Download Statistics

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