Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle.
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.
Scartezzini
P
P
Divisione di Pediatria, E.O Ospedali Galliera, Genoa, Italy.
Egeo
A
A
Colella
S
S
Fumagalli
P
P
Arrigo
P
P
Nizetic
D
D
Taramelli
R
R
Rasore-Quartino
A
A
D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D006224:Cricetinae; D003412:Cricetulus; D018076:DNA, Complementary; D005333:Fetus; D015870:Gene Expression; D018698:Glutamic Acid; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism*; D009206:Myocardium / Q000378:metabolism*; D011506:Proteins / Q000235:genetics; D018909:src Homology Domains
D018076:DNA, Complementary; D009124:Muscle Proteins; D011506:Proteins; C104671:SH3BGR protein, human; D018698:Glutamic Acid