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

Altered splicing of Tau in DM1 is different from the foetal splicing process,10.1016/j.febslet.2008.12.065,Febs Letters,Dana Ghanem,Hélène Tran,Claire

Altered splicing of Tau in DM1 is different from the foetal splicing process   (Citations: 1)
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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.
Journal: Febs Letters - FEBS LETT , vol. 583, no. 4, pp. 675-679, 2009
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