Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show bi-allelic expression, while the sole wild-type allele was transcribed in DM muscle. Our findings support a gene dosage effect in the pathogenesis of the disease.
Novelli
G
G
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
Gennarelli
M
M
Zelano
G
G
Pizzuti
A
A
Fattorini
C
C
Caskey
C T
CT
Dallapiccola
B
B
D000328:Adult; D000483:Alleles; D015139:Blotting, Southern; D004247:DNA / Q000096:biosynthesis; D004591:Electrophoresis, Polyacrylamide Gel; D005333:Fetus / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D009132:Muscles / Q000201:enzymology*; D009154:Mutation; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011494:Protein Kinases / Q000737:chemistry / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics*; D014158:Transcription, Genetic
C585517:DMPK protein, human; D012333:RNA, Messenger; D004247:DNA; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases