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Titolo:
Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins
Autore:
Stohr, H; Weber, BHF;
Indirizzi:
Univ Wurzburg, Biozentrum, Inst Human Genet, D-97074 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97074 Genet, D-97074 Wurzburg, Germany
Titolo Testata:
GENOMICS
fascicolo: 3, volume: 74, anno: 2001,
pagine: 377 - 384
SICI:
0888-7543(20010615)74:3<377:CACOTH>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR PROTEIN; CGMP-PHOSPHODIESTERASE; MEMBRANE-PROTEIN; TIGHT JUNCTION; MOLECULAR-CLONING; SEPTATE JUNCTIONS; DROSOPHILA DLG; PCR ARTIFACTS; HUMAN HOMOLOG; PDZ DOMAINS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Weber, BHF Univ Wurzburg, Biozentrum, Inst Human Genet, Hubland, D-97074 Wurzburg, Germany Univ Wurzburg Hubland Wurzburg Germany D-97074 rzburg, Germany
Citazione:
H. Stohr e B.H.F. Weber, "Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins", GENOMICS, 74(3), 2001, pp. 377-384

Abstract

To identify novel retina-specific genes systematically, we are performing expression profiling of retina ESTs that have been assembled in the human UniGene clusters, In this study, we report the 2619-bp full-length cDNA cloning and genomic organization of a gene corresponding to an EST cluster thatwas demonstrated to be exclusively present in retinal tissue. Alignment ofthe deduced amino acid sequence to sequence from protein databases revealed this gene, termed MPP4, to be a member of the membrane-associated guanylate kinase (MAGUK) protein family. It consists of 637 amino acids and contains the characteristic MAGUK motifs: an N-terminal PDZ domain, a central srchomology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. Due to the presence of only one PDZ motif, MPP4 is part of the p55 subfamily, named after the major palmitoylated erythrocyte membrane protein p55/MPP1. MAGUK proteins serve as molecular scaffolds to coordinate the membrane-associated cytoskeleton, ion channel and receptor clustering, signaling pathways, and the formation of cellular junctions, The abundant expression of MPP4 in the human retina suggests an important but so far unknown function in this tissue. Colocalization of MPP4 and autosomal recessive retinitispigmentosa 26 (RP26) on chromosome 2q31-q33 makes this transcript an attractive candidate for the disease gene. (C) 2001 Academic Press.

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Documento generato il 19/01/20 alle ore 20:03:26