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Titolo:
Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation
Autore:
Vafiadaki, E; Reis, A; Keers, S; Harrison, R; Anderson, LVB; Raffelsberger, T; Ivanova, S; Hoger, H; Bittner, RE; Bushby, K; Bashir, R;
Indirizzi:
Univ Durham, Dept Biol Sci, Durham DH1 3LE, England Univ Durham Durham England DH1 3LE ept Biol Sci, Durham DH1 3LE, England Univ Newcastle Upon Tyne, Sch Biochem & Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne &Wear England NE1 7RU Max Delbruck Ctr, Mikrosatellitenzentrum, D-13092 Berlin, Germany Max Delbruck Ctr Berlin Germany D-13092 zentrum, D-13092 Berlin, Germany Humboldt Univ, Charite, Inst Human Genet, D-13353 Berlin, Germany HumboldtUniv Berlin Germany D-13353 uman Genet, D-13353 Berlin, Germany Univ Med Sch, Dept Neurobiol, Newcastle Upon Tyne, Tyne & Wear, England Univ Med Sch Newcastle Upon Tyne Tyne & Wear England yne & Wear, England Univ Vienna, Neuromuscular Res Dept, Inst Anat, A-1090 Vienna, Austria Univ Vienna Vienna Austria A-1090 ept, Inst Anat, A-1090 Vienna, Austria
Titolo Testata:
NEUROREPORT
fascicolo: 3, volume: 12, anno: 2001,
pagine: 625 - 629
SICI:
0959-4965(20010305)12:3<625:COTMDG>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
GIRDLE MUSCULAR-DYSTROPHY; FER-1-LIKE PROTEIN; MIYOSHI MYOPATHY; 2B; MODIFIER; DEAFNESS; DFNB9; OTOF;
Keywords:
dysferlin; LGMD2B; SJL mouse strain;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Bashir, R Univ Durham, Dept Biol Sci, Durham DH1 3LE, England Univ DurhamDurham England DH1 3LE ci, Durham DH1 3LE, England
Citazione:
E. Vafiadaki et al., "Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation", NEUROREPORT, 12(3), 2001, pp. 625-629

Abstract

The SJL mouse strain has been widely used as an animal model for experimental autoimmune encephalitis (EAE), inflammatory muscle disease and lymphomas and has also been used as a background strain for the generation of animal models for a variety of diseases including motor neurone disease, multiple sclerosis and atherosclerosis. Recently the SJL mouse was shown to have myopathy due to dysferlin deficiency, so that it can now be considered a natural animal model for limb-girdle muscular dystrophy type 2B (LGMD2B) acid Miyoshi myopathy (MM). We have cloned the mouse dysferlin cDNA and analysisof the sequence shows that the mouse dysferlin gene is characterized by six C2 domain sequences and a C-terminal anchoring domain. with the human andthe mouse dysferlin genes sharing >90% sequence homology overall. Genomic analysis of the SJL mutation confirms that the 171 bp RNA deletion has arisen by exon skipping resulting from a splice site mutation. The identification of this mutation has implications for the various groups using this widely available mouse stock. NeuroReport 12:625-629 (C) 2001 Lippincott Williams & Wilkins.

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Documento generato il 13/07/20 alle ore 07:59:23