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

被引：11

作者：

Tokito, MK ^{[1
]}

Holzbaur, ELF ^{[1
]}

机构：

[1] Univ Penn, Sch Vet Med, Dept Anim Biol, Philadelphia, PA 19104 USA

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION | 1998年 / 1442卷 / 2-3期

关键词：

dynactin; DCTN1; cytoplasmic dynein; limb-girdle muscular dystrophy;

D O I：

10.1016/S0167-4781(98)00195-X

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 p150(Glued) 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 similar to 25 kb. Alternative splicing of several of the exons generates functionally distinct isoforms of the p150(Glued) polypeptide. (C) 1998 Elsevier Science B.V. All rights reserved.

引用

页码：432 / 436

页数：5

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