Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 5, Pages 543-553Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.227
Keywords
mutant RNA; RNA configuration; protein binding; CUGBP; MBNL; transcription factors
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Dystrophia myotonia type 1 (DM1; Steinert's disease; myotonic dystrophy) is an autosomal dominant disorder due to a large CTG expansion in the 30-untranslated region (UTR) of the DM protein kinase ( DMPK) gene. Transcription of this gene yields a long CUGn-containing mutant (mut) RNA, in which clinical disease is associated with repeats of n = 100-5000. Phenomenologically, the expression of mut RNA is correlated with the morphologic observation of ribonucleoprotein precipitates ('foci') in the nuclei of DMPK-expressing cells. The prevailing view is that the identification of proteins in these foci is the sine qua non of protein-mut RNA interactions. In this viewpoint, I contend that this is an unwarranted inference that falls short in explaining published data. A new model of mut RNA-protein interactions is proposed with distinct binding properties for soluble and insoluble (focus) mut RNA that accommodate these data without exclusions.
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