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rdf:type |
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lifeskim:mentions |
umls-concept:C0017262,
umls-concept:C0027126,
umls-concept:C0185117,
umls-concept:C0205341,
umls-concept:C0332307,
umls-concept:C1280500,
umls-concept:C1300562,
umls-concept:C1413195,
umls-concept:C1415938,
umls-concept:C1824763,
umls-concept:C2911684,
umls-concept:C2931689
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pubmed:issue |
3
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pubmed:dateCreated |
2006-2-6
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0006-3002
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
1762
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
329-34
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pubmed:dateRevised |
2008-5-13
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pubmed:meshHeading |
pubmed-meshheading:16376058-Base Sequence,
pubmed-meshheading:16376058-Cells, Cultured,
pubmed-meshheading:16376058-DNA Repeat Expansion,
pubmed-meshheading:16376058-Gene Expression Regulation,
pubmed-meshheading:16376058-Humans,
pubmed-meshheading:16376058-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16376058-Introns,
pubmed-meshheading:16376058-Lymphocytes,
pubmed-meshheading:16376058-Molecular Sequence Data,
pubmed-meshheading:16376058-Mutation,
pubmed-meshheading:16376058-Myotonic Dystrophy,
pubmed-meshheading:16376058-Phenotype,
pubmed-meshheading:16376058-Protein Isoforms,
pubmed-meshheading:16376058-RNA Precursors,
pubmed-meshheading:16376058-RNA Splicing,
pubmed-meshheading:16376058-RNA-Binding Proteins,
pubmed-meshheading:16376058-Recombinant Fusion Proteins,
pubmed-meshheading:16376058-Zinc Fingers
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pubmed:year |
2006
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pubmed:articleTitle |
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).
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pubmed:affiliation |
Department of Biopathology, Tor Vergata University, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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