Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography.
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.
Laissue
Paul
P
INSERM, U567, Institut Cochin, Paris 75014, France.
Burgio
Gaétan
G
l'Hôte
David
D
Renault
Gilles
G
Marchiol-Fournigault
Carmen
C
Fradelizi
Didier
D
Fellous
Marc
M
Serres
Catherine
C
Montagutelli
Xavier
X
Monget
Philippe
P
Vaiman
Daniel
D
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
D005819:Genetic Markers