Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle |
| |
| Authors: | P Scartezzini Aliana Egeo Stefano Colella Prisca Fumagalli Patrizio Arrigo Dean Nizetic Roberto Taramelli Alberto Rasore-Quartino |
| |
| Institution: | (1) Divisione di Pediatria, E.O. Ospedali Galliera, Mura delle Cappuccine 14, I-16128 Genoa, Italy Fax: +39-10-5632399, IT;(2) Dipartimento di Genetica e Biologia dei Microrganismi, Via Celoria 26, I-20133 Milan, Italy, IT;(3) Istituto Circuiti Elettronici, Consiglio Nazionale delle Ricerche, via De Marini 6, I-16149 Genoa, Italy, IT;(4) Centre of Applied Molecular Biology, School of Pharmacy, University of London, London, UK, GB;(5) Dipartimento di Biologia Animale, Università degli Studi di Catania, Via Androne 81, Catania, Italy, IT;(6) Istituto San Raffaele, Biomedical Science Park, I-20132 Milan, Italy, IT |
| |
| Abstract: | 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.
Received: 12 August 1996 / Revised: 22 October 1996 |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
