Regulation of splicing and functional links between splicing and transcription

In most eukaryotic genes the information in the DNA sequence is interrupted by noncoding regions called introns. An RNA copy of the gene has to be cut and then spliced back together to remove the introns and produce a continuous message with the correct information to produce a protein. An unexpectedly high proportion of genetic diseases and cancers are caused by splicing defects, and one-third of disease-causing single nucleotide polymorphisms have the potential to disrupt splicing. Professor Beggs will investigate the mechanistic links between pre-mRNA transcription and splicing, including the potential role of splicing-dependent transcriptional checkpoints as a cellular system of RNA quality control.