Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region.
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.
Sandri
Claudia
C
Venetian Institute of Molecular Medicine, Via Orus 2, 35129 Padua, Italy.
Di Lisi
Raffaella
R
Picard
Anne
A
Argentini
Carla
C
Calabria
Elisa
E
Myklak
Kristene
K
Scartezzini
Paolo
P
Schiaffino
Stefano
S
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
D009124:Muscle Proteins; C104671:SH3BGR protein, human