Vernet R

References (2)

Title : A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1 - Gauthier_2013_Hum.Mol.Genet_22_5188
Author(s) : Gauthier M , Marteyn A , Denis JA , Cailleret M , Giraud-Triboult K , Aubert S , Lecuyer C , Marie J , Furling D , Vernet R , Yanguas C , Baldeschi C , Pietu G , Peschanski M , Martinat C
Ref : Hum Mol Genet , 22 :5188 , 2013
Abstract : Myotonic dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that, in particular, provokes functional alteration of CUG-binding proteins. As a consequence, several genes with misregulated alternative splicing have been linked to clinical symptoms. In our search for additional molecular mechanisms that would trigger functional defects in DM1, we took advantage of mutant gene-carrying human embryonic stem cell lines to identify differentially expressed genes. Among the different genes found to be misregulated by DM1 mutation, one strongly downregulated gene encodes a transcription factor, ZNF37A. In this paper, we show that this defect in expression, which derives from a loss of RNA stability, is controlled by the RNA-binding protein, CUGBP1, and is associated with impaired myogenesis-a functional defect reminiscent of that observed in DM1. Loss of the ZNF37A protein results in changes in the expression of the subunit alpha1 of the receptor for the interleukin 13. This suggests that the pathological molecular mechanisms linking ZNF37A and myogenesis may involve the signaling pathway that is known to promote myoblast recruitment during development and regeneration.
ESTHER : Gauthier_2013_Hum.Mol.Genet_22_5188
PubMedSearch : Gauthier_2013_Hum.Mol.Genet_22_5188
PubMedID: 23922231

Title : Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy - Marteyn_2011_Cell.Stem.Cell_8_434
Author(s) : Marteyn A , Maury Y , Gauthier MM , Lecuyer C , Vernet R , Denis JA , Pietu G , Peschanski M , Martinat C
Ref : Cell Stem Cell , 8 :434 , 2011
Abstract : Myotonic dystrophy type 1 (DM1) is a multisystem disorder affecting a variety of organs, including the central nervous system. By using neuronal progeny derived from human embryonic stem cells carrying the causal DM1 mutation, we have identified an early developmental defect in genes involved in neurite formation and the establishment of neuromuscular connections. Differential gene expression profiling and quantitative RT-PCR revealed decreased expression of two members of the SLITRK family in DM1 neural cells and in DM1 brain biopsies. In addition, DM1 motoneuron/muscle cell cocultures showed alterations that are consistent with the known role of SLITRK genes in neurite outgrowth, neuritogenesis, and synaptogenesis. Rescue and knockdown experiments suggested that the functional defects can be directly attributed to SLITRK misexpression. These neuropathological mechanisms may be clinically significant for the functional changes in neuromuscular connections associated with DM1.
ESTHER : Marteyn_2011_Cell.Stem.Cell_8_434
PubMedSearch : Marteyn_2011_Cell.Stem.Cell_8_434
PubMedID: 21458401