Alternative splicing of mRNA precursors provides an important means of genetic control and
is a crucial step in the expression of most genes. Alternative splicing markedly affects human …

Recent advances in high‐throughput sequencing technologies have unexpectedly revealed
that somatic mutations of splicing factor genes frequently occurred in several types of …

Hotspot mutations in the spliceosome gene SF3B1 are reported in∼ 20% of uveal
melanomas. SF3B1 is involved in 3′-splice site (3′ ss) recognition during RNA splicing; …

Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders that often progress
to chemotherapy-resistant secondary acute myeloid leukemia (sAML). We used whole …

The U2AF heterodimer has been well studied for its role in defining functional 3′ splice
sites in pre-mRNA splicing, but many fundamental questions still remain unaddressed …

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

We previously identified missense mutations in the U2AF1 splicing factor affecting codons
S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo …

The alternative splicing code that controls and coordinates the transcriptome in complex
multicellular organisms remains poorly understood. It has long been argued that regulation …

Pre-mRNA splicing is functionally coupled to transcription, and genotoxic stresses can
enhance alternative exon inclusion by affecting elongating RNA polymerase II. We report …

Co-transcriptional pre-mRNA processing relies on reversible phosphorylation of the
carboxyl-terminal domain (CTD) of Rpb1, the largest subunit of RNA polymerase II (RNAP …