Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region
Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region
复制标题
DOI：
10.1007/s00439-004-1088-8
复制
发表时间：
2004-04-01
期刊：
影响因子：
5.3
通讯作者：
Schiaffino, S
中科院分区：
文献类型：
--
作者：
Sandri, C;Di Lisi, R;Schiaffino, S
先天性心脏病（CHD）是人类最常见的出生缺陷，40%的唐氏综合征（DS）新生儿患有先天性心脏病。SH 3BGR基因定位于DS-CHD区域，是CHD发病机制的潜在候选者，因为它选择性地在心肌和骨骼肌中表达。为了确定Sh 3bgr在小鼠心脏中的过表达是否可能导致心脏发育异常，我们使用心肌和平滑肌特异性启动子来驱动Sh 3bgr转基因的表达，从而产生了转基因小鼠。我们在这里报告，心脏形态发生不受过度表达的Sh 3bgr。
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.