Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene

被引:29
作者
Egeo, A
Mazzocco, M
Arrigo, P
Vidal-Taboada, JM
Oliva, R
Pirola, B
Giglio, S
Rasore-Quartino, A
Scartezzini, P
机构
[1] EO Osped Galliera, Div Neonatol, I-16128 Genoa, Italy
[2] CNR, Ist Circuiti Elettron, Genoa, Italy
[3] Univ Barcelona, Fac Med, Human Genome Lab, Barcelona 08036, Spain
[4] Biol Gen & Genet Med, Pavia, Italy
关键词
D O I
10.1006/bbrc.1998.8763
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
As part of an effort to identify genes potentially involved in the Down Syndrome pathogenesis, in this paper we report the identification and characterization of a new human gene (named SH3BGRL), which shows a high homology to the SH3BGR gene, previously mapped to the Down Syndrome region of chromosome 21, The SH3BGRL gene encodes for a small protein of 114 amino acids, sharing 60% identity and 84% conservation on the amino acid level with the middle, proline-rich region of the SH3BGR gene and containing a similar SH3 (Scr homology 3) binding motif, The SH3BGRL and the proline-rich region of SH3BGR proteins appear to be highly conserved, sharing 95 and 98% identity, respectively, with the mouse homologues. A 1.9 kb transcript of the SH3BGRL gene has been found in all the tissues examined, in contrast with the expression pattern of the SH3BGR gene which is transcribed only in heart and skeletal muscle. The SH3BGR gene and its homologue, SH3BGRL, could be members of a new family of genes containing a highly conserved proline-rich functional domain. The SH3BGRL gene has been mapped by fluorescent in situ hybridization to Chromosome Xq13.3. (C) 1998 Academic Press.
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页码:302 / 306
页数:5
相关论文
共 18 条
[1]   BASIC LOCAL ALIGNMENT SEARCH TOOL [J].
ALTSCHUL, SF ;
GISH, W ;
MILLER, W ;
MYERS, EW ;
LIPMAN, DJ .
JOURNAL OF MOLECULAR BIOLOGY, 1990, 215 (03) :403-410
[2]   WWP, A NEW AMINO-ACID MOTIF PRESENT IN SINGLE OR MULTIPLE COPIES IN VARIOUS PROTEINS INCLUDING DYSTROPHIN AND THE SH3-BINDING YES-ASSOCIATED PROTEIN YAP65 [J].
ANDRE, B ;
SPRINGAEL, JY .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 205 (02) :1201-1205
[3]   Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching [J].
Banfi, S ;
Borsani, G ;
Rossi, E ;
Bernard, L ;
Guffanti, A ;
Rubboli, F ;
Marchitiello, A ;
Giglio, S ;
Coluccia, E ;
Zollo, M ;
Zuffardi, O ;
Ballabio, A .
NATURE GENETICS, 1996, 13 (02) :167-174
[4]   ENDOCARDIAL CUSHION DEFECT - FURTHER-STUDIES OF ISOLATED VERSUS SYNDROMIC OCCURRENCE [J].
CARMI, R ;
BOUGHMAN, JA ;
FERENCZ, C .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03) :569-575
[5]   IDENTIFICATION OF A PROTEIN THAT BINDS TO THE SH3 REGION OF ABI AND IS SIMILAR TO BCR AND GAP-RHO [J].
CICCHETTI, P ;
MAYER, BJ ;
THIEL, G ;
BALTIMORE, D .
SCIENCE, 1992, 257 (5071) :803-806
[6]   MODULAR BINDING DOMAINS IN SIGNAL-TRANSDUCTION PROTEINS [J].
COHEN, GB ;
REN, RB ;
BALTIMORE, D .
CELL, 1995, 80 (02) :237-248
[7]   2 BINDING ORIENTATIONS FOR PEPTIDES TO THE SRC SH3 DOMAIN - DEVELOPMENT OF A GENERAL-MODEL FOR SH3-LIGAND INTERACTIONS [J].
FENG, SB ;
CHEN, JK ;
YU, HT ;
SIMON, JA ;
SCHREIBER, SL .
SCIENCE, 1994, 266 (5188) :1241-1247
[8]   SH2 AND SH3 DOMAINS - ELEMENTS THAT CONTROL INTERACTIONS OF CYTOPLASMIC SIGNALING PROTEINS [J].
KOCH, CA ;
ANDERSON, D ;
MORAN, MF ;
ELLIS, C ;
PAWSON, T .
SCIENCE, 1991, 252 (5006) :668-674
[10]   The IMAGE consortium: An integrated molecular analysis of genomes and their expression [J].
Lennon, G ;
Auffray, C ;
Polymeropoulos, M ;
Soares, MB .
GENOMICS, 1996, 33 (01) :151-152