Genome-wide survey of allele-specific splicing in humans.

ABSTRACT:

Background

Accurate mRNA splicing depends on multiple regulatory signals encoded in the transcribed RNA sequence. Many examples of mutations within human splice regulatory regions that alter splicing qualitatively or quantitatively have been reported and allelic differences in mRNA splicing are likely to be a common and important source of phenotypic diversity at the molecular level, in addition to their contribution to genetic disease susceptibility. However, because the effect of a mutation on the efficiency of mRNA splicing is often difficult to predict, many mutations that cause disease through an effect on splicing are likely to remain undiscovered.

Results

We have combined a genome-wide scan for sequence polymorphisms likely to affect mRNA splicing with analysis of pub

SUBMITTER: Nembaware V 

PROVIDER: S-EPMC2427040 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature