Development of next generation sequencing technologies has enabled detection of
extensive arrays of germline and somatic single nucleotide variations (SNVs) in human …

In silico tools have been developed to predict variants that may have an impact on pre-
mRNA splicing. The major limitation of the application of these tools to basic research and …

Pervasive expression of circular RNA is a recently discovered feature of eukaryotic gene
expression programs, yet its function remains largely unknown. The presumed biogenesis of …

Introduction to Fission Yeast as a Model System Cold Spring Harbor Protocols Skip to main
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During the splicing reaction, the 5′ intron end is joined to the branchpoint nucleotide,
selecting the next exon to incorporate into the mature RNA and forming an intron lariat …

Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic
branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 …

Endometrial cancer (EC) is one of the most common gynecologic malignancies. To identify
potential prognostic biomarkers for EC, we analyzed the relationship between the EC tumor …

Viruses that are typically benign sometimes invade the brainstem in otherwise healthy
children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities …

The coding sequence of each human pre-mRNA is interrupted, on average, by 11 introns
that must be spliced out for proper gene expression. Each intron contains three obligate …

Pre-mRNA splicing is accomplished by the spliceosome, a megadalton complex that
assembles de novo on each intron. Because spliceosome assembly and catalysis occur …