No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues

Gert Jansen, Marisa Bartolomel, Vera Kalscheuer, Gerard Merkx, Nicole Wormskamp, Edwin Mariman, Dominique Smeets, Hans Hilger Ropers, Bé Wleringa*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1221-1227
Number of pages7
JournalHuman Molecular Genetics
Volume2
Issue number8
DOIs
Publication statusPublished - 1 Aug 1993
Externally publishedYes

Bibliographical note

Funding Information:
We thank M.Schepens for technical assistance and H.Rehder for tissue sampling. This work was supported by the Deutsche Forschungsgemeinschaft grant Ro 389/15-5 to H.H.R. and by grants from the American Muscular Dystrophy Association (MDA), the Prinses Beatrixfbnds and the Association Francaise Centre les Myopathies (AFM) to B.W.

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