Human Molecular Genetics, Vol 8, 1491-1497, Copyright © 1999 by Oxford University Press
M Alwazzan, E Newman, MG Hamshere and JD Brook
Myotonic dystrophy is caused by the expansion of a CTG repeat sequence. The
mechanism by which this expanded repeat produces the pathophysiology of
myotonic dystrophy is not clear. It has been shown previously that
expansion of the repeat produces allele-specific effects on transcripts
from two genes, DMPK and SIX5. We have examined the effect of repeat
expansion on the level of RNA from a third gene, DMWD. We have identified a
polymorphism in this gene and developed a quantitative allele-specific
assay for DMWD RNA levels, which we have applied to nuclear and cytoplasmic
fractions of RNA from DM cell lines. We have found that the level of the
DM-associated allele in the cytoplasm of DM cell lines is reduced by 20-50%
compared with the wild- type allele, similar to the level of reduction
found for SIX5 in allele- specific analysis. However, no such reduction is
observed in RNA from the nuclear fraction of DM cell lines. This may
reflect the complex nature of processing transcriptional units at the DM
locus.
ARTICLES
Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK.
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