Topic for September: “Le grand et le petit”: splicing factors SF3B1 and SUGP1 and their cancer mutations leading to aberrant acceptor usage

This September, the CGC Webinar Series features a talk by Dr. Tatiana Popova, with the Institut Curie, in Paris, France. Tatiana is a senior scientist at the French Institute of Health and Medical Research (INSERM), in the Department of Genetics and Biology of Cancer at the Institut Curie. Tatiana also has a mathematics background and started working in the cancer genomics field in 2008.

Dr. Tatiana Popova, Senior Scientist in INSERM

During her webinar, Tatiana will present a recent discovery of SUGP1 (“Le petit”) as a splice factor, which experiences mutations in cancer leading to the same phenotype as missense mutations of SF3B1 (“Le grand”). The objective of the CGC-related part of her project was to discover all SF3B1-like splice aberrations in all cancer samples present in the TCGA. Tatiana used a Sequence Bloom Tree (SBT) structure built on TCGA RNA-seq data hosted on the CGC for fast and sensitive screening of aberrant splicing patterns. The discovery of cancer mutations in SUGP1 provides clues about the role of this small and low-abundance protein in splicing.