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

https://doi.org/10.1387/ijdb.082613pl

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 Laissue^1,2,3, Gaétan Burgio⁴, David l’Hôte^1,2,3,5, Gilles Renault^1,2,3, Carmen Marchiol-Fournigault^1,2,3, Didier Fradelizi^1,2,3, Marc Fellous^1,2,3, Catherine Serres^1,2,3, 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.

Abstract

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.

Keywords

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