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FEBS Lett. 2009 Feb 18;583(4):675-9. doi: 10.1016/j.febslet.2008.12.065. Epub 2009 Jan 21.

Altered splicing of Tau in DM1 is different from the foetal splicing process.

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  • 1Inserm U837 - Jean-Pierre Aubert Research Centre, Université de Lille, Institut de Médecine Prédictive et Recherche Thérapeutique, Place de Verdun, F-59045 Lille Cedex, France.


Among the different mechanisms underlying the etiopathogenesis of myotonic dystrophy type 1 (DM1), a backward reprogramming to a foetal splicing machinery is an interesting hypothesis. To address this possibility, Tau splicing, which is regulated during development and modified in DM1, was analyzed. Indeed, a preferential expression of the foetal Tau isoform, instead of the six normally found, is observed in adult DM1 brains. By using two cell lines, we show here that the cis-regulating elements necessary to generate the unique foetal Tau isoform are dispensable to reproduce the trans-dominant effect induced by DM1 mutation on Tau exon 2 inclusion. Our results suggest that the mis-splicing of Tau in DM1 is resulting from a disease-associated mechanism.

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