Scartezzini P, Egeo A, Colella S, Fumagalli P, Arrigo P, Nizetic D, Taramelli R, Rasore-Quartino A
Divisione di Pediatria, E.O Ospedali Galliera, Genoa, Italy.
Hum Genet. 1997 Mar;99(3):387-92. doi: 10.1007/s004390050377.
The identification and functional characterization of genes on chromosome 21 is a necessary step to understand the pathogenesis of the various phenotypic anomalies that affect Down syndrome patients. Using direct cDNA selection we have identified a new gene, SH3BGR, that maps to 21q22.3, proximal to HMG14, and is differentially expressed in heart and skeletal muscle. SH3BGR encodes a novel protein that is characterized by the presence of a proline-rich region containing the consensus sequence for a SH3-binding domain and by an acidic carboxyl-terminal region containing a glutamic acid-rich domain predicted to assume a coiled coil. The presence of two functional domains involved in protein-protein interactions suggests that SH3BGR could be part of a multimeric complex. Its overexpression might alter specific functions of muscular tissue and therefore take part in the pathophysiology of muscular hypotonia in Down syndrome.
鉴定21号染色体上的基因并对其功能进行表征，是了解影响唐氏综合征患者的各种表型异常发病机制的必要步骤。我们利用直接cDNA筛选技术鉴定出一个新基因SH3BGR，它定位于21q22.3，靠近HMG14，并且在心脏和骨骼肌中差异表达。SH3BGR编码一种新型蛋白质，其特征在于存在一个富含脯氨酸的区域，该区域包含SH3结合域的共有序列，以及一个酸性羧基末端区域，该区域包含一个预测会形成卷曲螺旋的富含谷氨酸的结构域。存在两个参与蛋白质-蛋白质相互作用的功能结构域，这表明SH3BGR可能是多聚体复合物的一部分。它的过表达可能会改变肌肉组织的特定功能，因此参与唐氏综合征肌肉张力减退的病理生理过程。
