Altered splicing of Tau in DM1 is different from the foetal splicing process.
FEBS Lett
; 583(4): 675-9, 2009 Feb 18.
Article
in En
| MEDLINE
| ID: mdl-19166838
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Tau Proteins
/
Alternative Splicing
/
Fetus
/
Myotonic Dystrophy
Limits:
Adult
/
Humans
Language:
En
Journal:
FEBS Lett
Year:
2009
Document type:
Article