TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing.

ABSTRACT: TDP-43 is a highly conserved, 43-kDa RNA-binding protein implicated to play a role in transcription repression, nuclear organization, and alternative splicing. More recently, this factor has been identified as the major disease protein of several neurodegenerative diseases, including frontotemporal lobar degeneration with ubiquitin-positive inclusions and amyotrophic lateral sclerosis. For the splicing activity, the factor has been shown to be mainly an exon-skipping promoter. In this study using the survival of motor neuron (SMN) minigenes as the reporters in transfection assay, we show for the first time that TDP-43 could also act as an exon-inclusion factor. Furthermore, both RNA-recognition motif domains are required for its ability to enhance the SMN2 exon 7 inclusion. Combined protei

SUBMITTER: Bose JK 

PROVIDER: S-EPMC2661999 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature