Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle

被引:33
作者
Scartezzini, P
Egeo, A
Colella, S
Fumagalli, P
Arrigo, P
Nizetic, D
Taramelli, R
RasoreQuartino, A
机构
[1] DIPARTIMENTO GENET & BIOL MICRORGAN,I-20133 MILAN,ITALY
[2] CNR,IST CIRCUITI ELETTRON,I-16149 GENOA,ITALY
[3] UNIV LONDON,SCH PHARM,CTR APPL MOL BIOL,LONDON WC1N 1AX,ENGLAND
[4] UNIV CATANIA,DIPARTIMENTO BIOL ANIM,CATANIA,ITALY
[5] IST SCI SAN RAFFAELE,I-20132 MILAN,ITALY
关键词
D O I
10.1007/s004390050377
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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收藏
页码:387 / 392
页数:6
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