title: Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.
abstract: The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alström syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon-intron structure of DCTN1 along with characterization of the 5' upstream sequence and alternative splice variants previously identified by Tokito et al. (1996), Mol. Biol. Cell 7: 1167-1180). Knowledge of the genomic structure of DCTN1allowed us to design intronic primers necessary for analyzing mutations in families segregating for diseases linked to this gene. These primers were tested on a French Acadian kindred segregating for Alström syndrome. No mutations were observed within the coding region of DCTN1 in this family. However, the intronic primers should allow for the rapid amplification of the coding region for mutational analysis of additional Alström families and other diseases tightly linked to the DCTN1locus on chromosome 2p13.
authors.affiliation: The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, 04609-1500, USA.
authors.forename: G B
authors.initials: GB
authors.lastname: Collin
authors.forename: P M
authors.initials: PM
authors.lastname: Nishina
authors.forename: J D
authors.initials: JD
authors.lastname: Marshall
authors.forename: J K
authors.initials: JK
authors.lastname: Naggert
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D000072159:Dynactin Complex; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009765:Obesity / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome
chemical_list: C000606360:DCTN1 protein, human; D017931:DNA Primers; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins