title: Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography.
abstract: Recurrent Spontaneous Abortion (RSA) is a frequent pathology affecting 1 to 5% of couples. In approximately 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.
authors.affiliation: INSERM, U567, Institut Cochin, Paris 75014, France.
authors.forename: Paul
authors.initials: P
authors.lastname: Laissue
authors.forename: Gaétan
authors.initials: G
authors.lastname: Burgio
authors.forename: David
authors.initials: D
authors.lastname: l'Hôte
authors.forename: Gilles
authors.initials: G
authors.lastname: Renault
authors.forename: Carmen
authors.initials: C
authors.lastname: Marchiol-Fournigault
authors.forename: Didier
authors.initials: D
authors.lastname: Fradelizi
authors.forename: Marc
authors.initials: M
authors.lastname: Fellous
authors.forename: Catherine
authors.initials: C
authors.lastname: Serres
authors.forename: Xavier
authors.initials: X
authors.lastname: Montagutelli
authors.forename: Philippe
authors.initials: P
authors.lastname: Monget
authors.forename: Daniel
authors.initials: D
authors.lastname: Vaiman
mesh_terms: D000818:Animals; D020964:Embryo Loss / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D008297:Male; D051379:Mice; D010641:Phenotype; D011247:Pregnancy; D040641:Quantitative Trait Loci / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D005819:Genetic Markers