We report the identification of a cluster of five different germline mutations at the p14ARF exon 1β splice donor site in melanoma pedigrees.

Point mutation in DJ-1 gene derails splicing machinery. Transcripts lack exon 3 and make no protein. Fixing the splicing defect restores DJ1 production and mitochondrial function in patient neurons.

In other words: how a mutation within a given 5' splice site will affect splicing is somewhat predictable, but is also influenced by context beyond the splice site itself.

But a mutation creates a new word. For example, an A-to-T mutation could change "AAA" to "ATA." In a normal genome, if AAA encodes proper splicing, its average distance to the nearest splice site will ...

In other words: how a mutation within a given 5' splice site will affect splicing is somewhat predictable, but is also influenced by context beyond the splice site itself.

We identified carriers of inactivating mutations (nonsense, splice-site, or frameshift mutations). In addition, we genotyped a specific inactivating mutation (p.Arg406X) in 22,590 patients with ...

A mutation that changes a word close to splicing sites into one that is typically found far from splicing sites would be of particular concern because it could have a likely adverse effect on ...

Aside from mutations in the splice site consensus sequence, there have been numerous examples of genetic diseases in which abnormal splicing occurs due to changes in the auxiliary cis-elements ...

These data, coupled with the absence of nonsense, splice-site, and frameshift mutations, suggest that the mutated SF3B1 protein is likely to retain structural integrity, albeit with presumably ...

We show that these 55 nucleotides are deleted by mRNA splicing due to a single C→G substitution that creates a novel splice donor site.