RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.

ABSTRACT: Genomic variations deep in the intronic regions of pre-mRNA molecules are increasingly reported to affect splicing events. However, there is no general explanation why apparently similar variations may have either no effect on splicing or cause significant splicing alterations. In this work we have examined the structural architecture of pseudoexons previously described in ATM and CFTR patients. The ATM case derives from the deletion of a repressor element and is characterized by an aberrant 5'ss selection despite the presence of better alternatives. The CFTR pseudoexon instead derives from the creation of a new 5'ss that is used while a nearby pre-existing donor-like sequence is never selected. Our results indicate that RNA structure is a major splicing regulatory factor in both cases. Fu

SUBMITTER: Buratti E 

PROVIDER: S-EPMC1935003 | biostudies-literature | 2007

REPOSITORIES: biostudies-literature