Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region

Claudia Sandri; Raffaella Di Lisi; Anne Picard; Carla Argentini; Elisa Calabria; Kristene Myklak; Paolo Scartezzini; Stefano Schiaffino

doi:10.1007/s00439-004-1088-8

Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region

Claudia Sandri, Raffaella Di Lisi, Anne Picard, Carla Argentini, Elisa Calabria, Kristene Myklak, Paolo Scartezzini, Stefano Schiaffino

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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.

Original language	English
Pages (from-to)	517-519
Number of pages	3
Journal	Human Genetics
Volume	114
Issue number	5
DOIs	https://doi.org/10.1007/s00439-004-1088-8
State	Published - Apr 2004
Externally published	Yes

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

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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.",

author = "Claudia Sandri and {Di Lisi}, Raffaella and Anne Picard and Carla Argentini and Elisa Calabria and Kristene Myklak and Paolo Scartezzini and Stefano Schiaffino",

note = "Funding Information: Acknowledgements We thank Dr. J. Robbins for kindly providing the beta/slow MyHC construct, Fiorella Altruda for the production of the transgenic mice and Lisa Agatea for technical assistance. This study was supported by a grant from EC (Biomed Contract BMH4/CT98/404).",

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T1 - Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region

AU - Sandri, Claudia

AU - Di Lisi, Raffaella

AU - Picard, Anne

AU - Argentini, Carla

AU - Calabria, Elisa

AU - Myklak, Kristene

AU - Scartezzini, Paolo

AU - Schiaffino, Stefano

N1 - Funding Information: Acknowledgements We thank Dr. J. Robbins for kindly providing the beta/slow MyHC construct, Fiorella Altruda for the production of the transgenic mice and Lisa Agatea for technical assistance. This study was supported by a grant from EC (Biomed Contract BMH4/CT98/404).

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N2 - 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.

AB - 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.

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Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region

Abstract

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