Genomic organization and transcriptional units at the myotonic dystrophy locus

• Published in: Genomics (San Diego, Calif.) Vol. 18; no. 3; pp. 673 - 679
• Main Authors: Shaw, Duncan J., McCurrach, Mila, Rundle, Shelley A., Harley, Helen G., Crow, Stephen R., Sohn, Robert, Thirion, Jean-Paul, Hamshere, Marion G., Buckler, Alan J., Harper, Peter S., Housman, David E., Brook, J. David
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01.12.1993; Elsevier
• Subjects: 550200 - Biochemistry; 550400 - Genetics; AMINO ACID SEQUENCE; Animals; Base Sequence; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; Blotting, Northern; Brain - enzymology; DISEASES; Diseases of striated muscles. Neuromuscular diseases; DNA SEQUENCING; ENZYMES; Exons; Fundamental and applied biological sciences. Psychology; Gene Expression; GENES; Genes. Genome; Genomic Library; HEREDITARY DISEASES; Humans; Introns; Male; Medical sciences; Mice; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; MOLECULAR STRUCTURE; MUSCLES; Muscles - enzymology; Myotonic Dystrophy - enzymology; Myotonic Dystrophy - genetics; Myotonin-Protein Kinase; Neurology; Organ Specificity; ORGANIC COMPOUNDS; PHOSPHORUS-GROUP TRANSFERASES; PHOSPHOTRANSFERASES; Polymorphism, Restriction Fragment Length; Protein Structure, Secondary; Protein-Serine-Threonine Kinases - genetics; PROTEINS; Restriction Mapping; STRUCTURAL CHEMICAL ANALYSIS; TRANSFERASES; Human; Neuromuscular diseases; Nervous system diseases; Nucleotide sequence; Enzyme; Myotonia; Transferases; Homology; Gene organization; Gene expression; Genetic disease; Complementary DNA; Myotonic dystrophy; Domain structure; Protein kinase; Chromosome DNA; Brain (vertebrata)
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1016/S0888-7543(05)80372-6

The genomic structure and apparently complete codingsequence of the myotonic dystrophy protein kinase gene have been determined. The gene contains 15 exons distributed over about 13 kb of genomic DNA. It codes for a protein of 624 amino acids with an N-terminal domain highly homologous to cAMP-dependent serine-threonine protein kinases, an intermediate domain with a high α-helical content and weak similarity to various filamentous proteins, and a hydrophobic C-terminal segment. Located in close proximity is a second gene, coding for a transcript of about 3 kb, that is homologous to the gene DMR-N9 in the corresponding mouse locus, but has no homologies to other known genes or proteins. Strong expression of the latter gene in brain suggests that it may have a role in the development of mental symptoms in severe cases of the disease.