title: Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region.
abstract: Congenital heart disease (CHD) is the most common birth defect in humans and is present in 40% of newborns affected by Down syndrome (DS). The SH3BGR gene maps to the DS-CHD region and is a potential candidate for the pathogenesis of CHD, since it is selectively expressed in cardiac and skeletal muscle. To determine whether overexpression of Sh3bgr in the murine heart may cause abnormal cardiac development, we have generated transgenic mice using a cardiac- and skeletal-muscle-specific promoter to drive the expression of a Sh3bgr transgene. We report here that heart morphogenesis is not affected by overexpression of Sh3bgr.
authors.affiliation: Venetian Institute of Molecular Medicine, Via Orus 2, 35129 Padua, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Sandri
authors.forename: Raffaella
authors.initials: R
authors.lastname: Di Lisi
authors.forename: Anne
authors.initials: A
authors.lastname: Picard
authors.forename: Carla
authors.initials: C
authors.lastname: Argentini
authors.forename: Elisa
authors.initials: E
authors.lastname: Calabria
authors.forename: Kristene
authors.initials: K
authors.lastname: Myklak
authors.forename: Paolo
authors.initials: P
authors.lastname: Scartezzini
authors.forename: Stefano
authors.initials: S
authors.lastname: Schiaffino
mesh_terms: D000818:Animals; D004314:Down Syndrome / Q000150:complications*; D015870:Gene Expression; D006321:Heart / Q000196:embryology*; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D051379:Mice; D008822:Mice, Transgenic; D009024:Morphogenesis; D009124:Muscle Proteins / Q000235:genetics*; D019076:Transgenes
chemical_list: D009124:Muscle Proteins; C104671:SH3BGR protein, human