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Comparative analysis of Mbl attenuation and CUG non-coding repeats expression in Drosophila larval muscles

ABSTRACT: Myotonic dystrophy type 1 (DM1) is a neuro-muscular disorder caused by CTG triplet expansion in the 3-UTR of the DMPK gene. Mutated transcripts aggregate in muscle nuclei and sequester the MBNL1 splicing factor. To assess the involvement of Mbl sequestration on transcriptpion deregulation in DM1, we performed genome wide analyses of gene expression of DM1 Drosophila model in three different genetic contexts: Mef>mblRNAi, Mef>600CTG, Mef>960CTG vs. Mef>lacZ control line.

ORGANISM(S): Drosophila melanogaster

SUBMITTER: Lucie Picchio

PROVIDER: E-MTAB-1469 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression.

Picchio Lucie L Plantie Emilie E Renaud Yoan Y Poovthumkadavil Preethi P Jagla Krzysztof K

Human molecular genetics 20130321 14

Myotonic dystrophy type 1 (DM1) is a multisystemic RNA-dominant disorder characterized by myotonia and muscle degeneration. In DM1 patients, the mutant DMPK transcripts containing expanded CUG repeats form nuclear foci and sequester the Muscleblind-like 1 splicing factor, resulting in mis-splicing of its targets. However, several pathological defects observed in DM1 and their link with disease progression remain poorly understood. In an attempt to fill this gap, we generated inducible transgenic ...[more]

PMID: 23525904

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