© 1993 Oxford University Press
RESEARCH-ARTICLE |
No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues
Department of Cell Biology and Histology, Medical School University Nijmegen Tngon Building, PO Box 9101, 6500 HB Nijmegen, The Netherlands 1Department of Molecular Biology, Howard Hughes Medical Institute, Lewis Thomas Laboratory, Princeton University Princeton, NJ 08544-1014, USA 2Department of Human Genetics, Radboud Hospital University Nijmegen The Netherlands
*To whom correspondence should be addressed
Received March 22, 1993; Revised June 2, 1993; Accepted June 2, 1993
To explain the restriction of early onset cases of myotonic dystrophy (DM) to maternal transmittance and the significant excess of male transmitters in the last asymptomatic generation, the Involvement of parental effects on the autosomal dominant mode of inheritance has been suggested. Using FISH we confirmed that the DM-kinase gene is proximal to the ApoE gene on mouse chromosome 7, close to an imprinted segment. To study whether there is any firm molecular basis for the speculation that imprinting may be involved in DM we have analysed the expression of paternal and maternal alleles of the DM-kinase gene in human and mouse tissues. Length polymorphisms In the 3' non coding exons of human and mouse DM kinase genes, i.e. the variable [CTG]n repeat motif in humans and a newly identified Cn stretch variation In mice, served as tools to distinguish between allelic RNA products in various tissues. In human tissues, presence of transcripts from both parental alleles could be demonstrated by RT-PCR. In mouse, similar observations were made using a RNAse protection assay on fetal and adult muscle RNAs. We conclude that imprinting does not play a role in the expression of the DM kinase gene.
+ Present address: Department of Cell and Developmental Biology, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104-6058, USA
These authors contributed equally to this work
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