The International Journal of Developmental Biology

Int. J. Dev. Biol. 53: 623 - 629 (2009)

Vol 53, Issue 4

Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography

Short Communication | Published: 22 April 2009

Paul Laissue1,2,3, Gaétan Burgio4, David l’Hôte1,2,3,5, Gilles Renault1,2,3, Carmen Marchiol-Fournigault1,2,3, Didier Fradelizi1,2,3, Marc Fellous1,2,3, Catherine Serres1,2,3, Xavier Montagutelli4, Philippe Monget6 and Daniel Vaiman*,1,2,3,7.

1INSERM, U567, Institut Cochin, Paris, 2CNRS, UMR8104, Institut Cochin, Paris, 3Université Paris Descartes, Faculté de Médecine Hôpital Cochin, Paris, 4Institut Pasteur, Unité de Génétique des Mammifères, Paris, 5INRA/Université de Limoges, UMR 1061, Unité de Génétique Moléculaire Animale, Université de Limoges, Limoges, 6INRA – CNRS - Université de Tours - Haras Nationaux, Nouzilly and 7INRA, Department of Animal Genetics, Jouy-en-Josas, France.


Recurrent Spontaneous Abortion (RSA) is a frequent pathology affecting 1 to 5% of couples. In ~50 % of cases, the aetiology is unknown suggesting a subtle interaction between genetic and environmental factors. Previous attempts to describe genetic factors using the candidate gene approach have been relatively unsuccessful due to the physiological, cellular and genetic complexity of mammalian reproduction. Indeed, fertility can be considered as a quantitative feature resulting from the interaction of genetic, epigenetic and environmental factors. Herein, we identified Quantitative Trait Loci (QTL) associated with diverse embryonic lethality phenotypes and the subsequent embryonic resorption in 39 inter-specific recombinant congenic mice strains, using in vivo ultrasound bio-microscopy. The short chromosomal intervals related to the phenotypes will facilitate the study of a restricted number of candidate genes which are potentially dysregulated in patients affected by RSA.


resorption, ultrasound biomicroscopy, quantitative trait loci, recurrent spontaneous abortion

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