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Biochim Biophys Acta. 1998 Nov 8;1442(2-3):432-6.

The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B).

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  • 1Department of Animal Biology, University of Pennsylvania School of Veterinary Medicine, 143 Rosenthal Building, 3800 Spruce Street, Philadelphia, PA 19104-6046, USA.

Abstract

Dynactin is a required activator for the molecular motor cytoplasmic dynein, and is likely to be essential for normal neuronal development. Previously we mapped the human gene encoding the p150Glued subunit of dynactin to 2p13, in the vicinity of the locus linked to limb-girdle muscular dystrophy (LGMB2B). We now report the genomic organization of DCTN1. We have identified 32 exons in the gene which spans approximately 25 kb. Alternative splicing of several of the exons generates functionally distinct isoforms of the p150Glued polypeptide.

PMID:
9805007
[PubMed - indexed for MEDLINE]
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