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Titolo:
WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
Autore:
Takeda, K; Inoue, H; Tanizawa, Y; Matsuzaki, Y; Oba, J; Watanabe, Y; Shinoda, K; Oka, Y;
Indirizzi:
Yamaguchi Univ, Sch Med, Dept Internal Med 3, Yamaguchi 7558505, Japan Yamaguchi Univ Yamaguchi Japan 7558505 l Med 3, Yamaguchi 7558505, Japan Yamaguchi Univ, Sch Med, Dept Anat, Yamaguchi 7558505, Japan Yamaguchi Univ Yamaguchi Japan 7558505 pt Anat, Yamaguchi 7558505, Japan Yamaguchi Univ, Sch Med, Dept Neuropsychiat, Yamaguchi 7558505, Japan Yamaguchi Univ Yamaguchi Japan 7558505 sychiat, Yamaguchi 7558505, Japan
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 5, volume: 10, anno: 2001,
pagine: 477 - 484
SICI:
0964-6906(20010301)10:5<477:W(S1GP>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSMEMBRANE PROTEIN; PSYCHIATRIC-DISORDERS; DIABETES-INSIPIDUS; DIDMOAD SYNDROME; OPTIC ATROPHY; MUTATIONS; IDENTIFICATION; FAMILIES; MELLITUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Oka, Y Yamaguchi Univ, Sch Med, Dept Internal Med 3, Yamaguchi 7558505, Japan Yamaguchi Univ Yamaguchi Japan 7558505 , Yamaguchi 7558505, Japan
Citazione:
K. Takeda et al., "WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain", HUM MOL GEN, 10(5), 2001, pp. 477-484

Abstract

Wolfram (DIDMOAD) syndrome is an autosomal recessive neurodegenerative disorder accompanied by insulin-dependent diabetes mellitus and progressive optic atrophy. Recent positional cloning led to identification of the WFS1 (Wolfram syndrome 1) gene, a member of a novel gene family of unknown function. In this study, we generated a specific antibody against the C-terminus of the WFS1 protein and investigated its subcellular localization in cultured cells. We also studied its distribution in the rat brain. Biochemical studies indicated the WFS1 protein to be an integral, endoglycosidase H-sensitive membrane glycoprotein that localizes primarily in the endoplasmic reticulum (ER). Consistent with this, immunofluorescence cell staining of overexpressed WFS1 showed a characteristic reticular pattern over the cytoplasm and overlapped with the ER marker staining, No co-focalization of WFS1 with mitochondria argues against an earlier clinical hypothesis that Wolfram syndrome is a mitochondria-mediated disorder. In the rat brain, at both the protein and mRNA level, WFS1 was found to be present predominantly in selected neurons in the hippocampus CA1, amygdaloid areas, olfactory tubercle and superficial layer of the allocortex. These expression sites, i.e. components of the limbic system or structures closely associated with this system, may be involved in the psychiatric, behavioral and emotional abnormalities characteristic of this syndrome. ER localization of WFS1 suggests that this protein plays an as yet undefined role in membrane trafficking, protein processing and/or regulation of ER calcium homeostasis. These studies represent a first step toward the characterization of WFS1 protein, which presumably functions to maintain certain populations of neuronal and endocrine cells.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/20 alle ore 21:39:39