HUMAN DCTN1 - GENOMIC STRUCTURE AND EVALUATION AS A CANDIDATE FOR ALSTROM-SYNDROME

The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, th e candidate region for various diseases including Alstrom syndrome, li mb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon-intron structure of DCTN1 along with characterization of the 5' u pstream sequence and alternative splice variants previously identified by Tokito et al, (1996), MoL. Biol. Cell 7: 1167-1180), Knowledge of the genomic structure of DCTN1 allowed us to design intronic primers n ecessary for analyzing mutations in families segregating for diseases linked to this gene. These primers were tested on a French Acadian kin dred segregating for Alstrom syndrome. No mutations were observed with in-the coding region of DCTN1 in this family. However, the intronic pr imers should allow for the rapid amplification of the coding region fo r mutational analysis of additional Alstrom families and other disease s tightly linked to the DCTN1 locus on chromosome 2p13. (C) 1998 Acade mic Press.