Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)

Annalisa Botta, Sara Caldarola, Laura Vallo, Emanuela Bonifazi, Doriana Fruci, Francesca Gullotta, Roberto Massa, Giuseppe Novelli, Fabrizio Loreni

Research output: Contribution to journalArticlepeer-review


Myotonic dystrophy is caused by two different mutations: a (CTG) n expansion in 3′ UTR region of the DMPK gene (DM1) and a (CCTG)n expansion in intron 1 of the ZNF9 gene (DM2). The most accredited mechanism for DM pathogenesis is an RNA gain-of-function. Other findings suggest a contributory role of DMPK-insufficiency in DM1. To address the issue of ZNF9 role in DM2, we have analyzed the effects of (CCTG) n expansion on ZNF9 expression in lymphoblastoid cell lines (n = 4) from DM2 patients. We did not observe any significant alteration in ZNF9 mRNA and protein levels, as shown by QRT-PCR and Western blot analyses. Additional RT-PCR experiments demonstrated that ZNF9 pre-mRNA splicing pattern, which includes two isoforms, is unmodified in DM2 cells. Our results indicate that the (CCTG)n expansion in the ZNF9 intron does not appear to have a direct consequence on the expression of the gene itself.

Original languageEnglish
Pages (from-to)329-334
Number of pages6
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Issue number3
Publication statusPublished - Mar 2006


  • CCTG expansion
  • DM2
  • Myotonic dystrophy
  • Splicing isoform
  • ZNF9 expression

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics


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