title: The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B).
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.
authors.affiliation: Department of Animal Biology, University of Pennsylvania School of Veterinary Medicine, 143 Rosenthal Building, 3800 Spruce Street, Philadelphia, PA 19104-6046, USA.
authors.forename: M K
authors.initials: MK
authors.lastname: Tokito
authors.forename: E L
authors.initials: EL
authors.lastname: Holzbaur
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002460:Cell Line; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D017931:DNA Primers; D000072159:Dynactin Complex; D004398:Dyneins / Q000378:metabolism; D005091:Exons; D015723:Gene Library; D006801:Humans; D007438:Introns; D008869:Microtubule-Associated Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009474:Neurons / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011994:Recombinant Proteins / Q000096:biosynthesis / Q000737:chemistry
chemical_list: C000606360:DCTN1 protein, human; D017931:DNA Primers; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; D011994:Recombinant Proteins; D004398:Dyneins