THE GENOMIC STRUCTURE OF DCTN1, A CANDIDATE GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2B)

Citation
Mk. Tokito et Elf. Holzbaur, THE GENOMIC STRUCTURE OF DCTN1, A CANDIDATE GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2B), Biochimica et biophysica acta, N. Gene structure and expression, 1442(2-3), 1998, pp. 432-436
Citations number
21
Categorie Soggetti
Biology,Biophysics
ISSN journal
01674781
Volume
1442
Issue
2-3
Year of publication
1998
Pages
432 - 436
Database
ISI
SICI code
0167-4781(1998)1442:2-3<432:TGSODA>2.0.ZU;2-5
Abstract
Dynactin is a required activator for the molecular motor cytoplasmic d ynein, and is likely to be essential for normal neuronal development. Previously we mapped the human gene encoding the p150(Glued) subunit o f dynactin to 2p13, in the vicinity of the locus linked to limb-girdle muscular dystrophy (LGMB2B). We now report the genomic organization o f DCTN1. We have identified 32 exons in the gene which spans similar t o 25 kb. Alternative splicing of several of the exons generates functi onally distinct isoforms of the p150(Glued) polypeptide. (C) 1998 Else vier Science B.V. All rights reserved.