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

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 e...

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Autores principales:	Magalie Vatin, Gaetan Burgio, Gilles Renault, Paul Laissue, Virginie Firlej, Françoise Mondon, Xavier Montagutelli, Daniel Vaiman, Catherine Serres, Ahmed Ziyyat
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3c85b1fbc93948ed8d34f85be915745b
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spelling	oai:doaj.org-article:3c85b1fbc93948ed8d34f85be915745b2021-11-18T07:08:33ZRefined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.1932-620310.1371/journal.pone.0043356https://doaj.org/article/3c85b1fbc93948ed8d34f85be915745b2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22916247/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Recurrent 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.Magalie VatinGaetan BurgioGilles RenaultPaul LaissueVirginie FirlejFrançoise MondonXavier MontagutelliDaniel VaimanCatherine SerresAhmed ZiyyatPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e43356 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Magalie Vatin Gaetan Burgio Gilles Renault Paul Laissue Virginie Firlej Françoise Mondon Xavier Montagutelli Daniel Vaiman Catherine Serres Ahmed Ziyyat Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
description	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.
format	article
author	Magalie Vatin Gaetan Burgio Gilles Renault Paul Laissue Virginie Firlej Françoise Mondon Xavier Montagutelli Daniel Vaiman Catherine Serres Ahmed Ziyyat
author_facet	Magalie Vatin Gaetan Burgio Gilles Renault Paul Laissue Virginie Firlej Françoise Mondon Xavier Montagutelli Daniel Vaiman Catherine Serres Ahmed Ziyyat
author_sort	Magalie Vatin
title	Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
title_short	Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
title_full	Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
title_fullStr	Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
title_full_unstemmed	Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
title_sort	refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/3c85b1fbc93948ed8d34f85be915745b
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Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death.

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