Developmental expression of the SH3BGR gene, mapping to the Down syndrome heart critical region
Developmental expression of the SH3BGR gene, mapping to the Down syndrome heart critical region
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DOI：
10.1016/s0925-4773(99)00253-1
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发表时间：
2000-02-01
影响因子：
2.6
通讯作者：
Scartezzini, P
中科院分区：
文献类型：
--
作者：
Egeo, A;Di Lisi, R;Scartezzini, P
SH3BGR基因最近被分离并定位在唐氏综合征(DS)先天性心脏病(CHD)最小区域的21号染色体上。作为评估SH3BGR可能参与影响40%DS患者的CHD的第一步，我们通过原位杂交分析了小鼠同源基因(Sh3bgr)在发育过程中的表达模式。我们的结果表明，Sh3bgr在胚胎7.75天(E7.75天)就已经在心源性前中胚层中表达，而在E8.5~E10.5天，它的表达仅限于心脏。在随后的发育阶段，Sh3bgr转录本也在骨骼肌和包括膀胱和肠壁在内的一些内脏平滑肌中检测到，但在血管平滑肌中检测不到。我们的结果表明，Sh3bgr在小鼠心脏发育的早期阶段就有表达，支持该基因在心脏形态发生中的可能作用，从而在DS的CHD发病机制中发挥作用。(C)2000爱思唯尔爱尔兰科学有限公司。保留所有权利。
The SH3BGR gene has been recently isolated and mapped to chromosome 21 within the Down syndrome (DS) congenital heart disease (CHD) minimal region. As a first step to evaluate the possible involvement of SH3BGR in CHD that affect 40% of DS patients, we have analyzed by in situ hybridization the expression pattern of the mouse homolog gene (Sh3bgr), during development. Our results show that Sh3bgr is already expressed at embryonic day 7.75 (E7.75) in the precardiogenic mesoderm and that from E8.5 to E10.5 its expression is restricted to the heart. In subsequent developmental stages, Sh3bgr transcripts are also detected in skeletal muscle and in some visceral smooth muscles including urinary bladder and gut wall, but not in vascular smooth muscle. Our results, demonstrating that Sh3bgr is expressed in earliest stages of mouse heart development, support a possible role of this gene in heart morphogenesis and, consequently, in the pathogenesis of CHD in DS. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.