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

Resultado de la investigación: Contribución a RevistaArtículo

8 Citas (Scopus)

Resumen

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.
Idioma originalEnglish (US)
PublicaciónPLoS One
DOI
EstadoPublished - ago 16 2012

Huella dactilar

Chromosomes, Human, Pair 1
Quantitative Trait Loci
embryonic mortality
Chromosomes
quantitative trait loci
Habitual Abortion
abortion (animals)
Genes
Spontaneous Abortion
chromosomes
mice
human fertility
uterine tissue
Congenic Mice
genes
proteasome endopeptidase complex
Genetic Association Studies
Proteasome Endopeptidase Complex
First Pregnancy Trimester
protein degradation

Citar esto

Vatin, Magalie ; Burgio, Gaetan ; Renault, Gilles ; Laissue, Paul ; Firlej, Virginie ; Mondon, Françoise ; Montagutelli, Xavier ; Vaiman, Daniel ; Serres, Catherine ; Ziyyat, Ahmed. / Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death. En: PLoS One. 2012.
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title = "Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death",
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. {\circledC} 2012 Vatin et al.",
author = "Magalie Vatin and Gaetan Burgio and Gilles Renault and Paul Laissue and Virginie Firlej and Fran{\cc}oise Mondon and Xavier Montagutelli and Daniel Vaiman and Catherine Serres and Ahmed Ziyyat",
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Vatin, M, Burgio, G, Renault, G, Laissue, P, Firlej, V, Mondon, F, Montagutelli, X, Vaiman, D, Serres, C & Ziyyat, A 2012, 'Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death', PLoS One. https://doi.org/10.1371/journal.pone.0043356

Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death. / Vatin, Magalie; Burgio, Gaetan; Renault, Gilles; Laissue, Paul; Firlej, Virginie; Mondon, Françoise; Montagutelli, Xavier; Vaiman, Daniel; Serres, Catherine; Ziyyat, Ahmed.

En: PLoS One, 16.08.2012.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death

AU - Vatin, Magalie

AU - Burgio, Gaetan

AU - Renault, Gilles

AU - Laissue, Paul

AU - Firlej, Virginie

AU - Mondon, Françoise

AU - Montagutelli, Xavier

AU - Vaiman, Daniel

AU - Serres, Catherine

AU - Ziyyat, Ahmed

PY - 2012/8/16

Y1 - 2012/8/16

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AB - 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.

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