Genomic organization and transcriptional units at the myotonic dystrophy locus.
The genomic structure and apparently complete coding sequence 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 alpha-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.
Shaw
D J
DJ
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.
McCurrach
M
M
Rundle
S A
SA
Harley
H G
HG
Crow
S R
SR
Sohn
R
R
Thirion
J P
JP
Hamshere
M G
MG
Buckler
A J
AJ
Harper
P S
PS
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D001921:Brain / Q000201:enzymology; D005091:Exons; D015870:Gene Expression; D015698:Genomic Library; D006801:Humans; D007438:Introns; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology; D009223:Myotonic Dystrophy / Q000201:enzymology* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D009928:Organ Specificity; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017433:Protein Structure, Secondary; D015183:Restriction Mapping
C585517:DMPK protein, human; C585516:DMPK protein, mouse; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases