PhD Lecture by Kai Wang, CBS

Systems biology analysis of pre-mRNA splicing and alternative splicing, and its role in cancers

Monday September 7, 2009 at 13:00
CBS, DTU, Lyngby, Building 306, Auditorium 31
Assessment Committee:    Professor Anders Gorm Pedersen, DTU (Chairman)
Professor Jan Gorodkin, KU
Bioinformatics Team Leader Pierre Rouzé, Ghent University
Chair of defense:Professor Søren Brunak, DTU
Supervisor:Professor Søren Brunak, DTU


Pre-mRNA splicing reaction is a critical step of gene expression. Up to 95% of human gene sequences are intervening sequences (introns), and cells must precisely excise the introns and ligate the coding sequences (exons) by splicing processes. More than three hundreds of proteins and many RNAs are involved in this complex and elaborate processing, via a large number of RNA-RNA, proteinprotein, and RNA-protein interactions. Different exons and introns reorganization, called alternative splicing, can yield rearranged genes with altered functions, and it contributes to diversity of proteins based on the same DNA sequences. The past years have witnessed the refinements in the understanding of network models of splicing/alternative splicing regulatory elements and functions, but the detailed mechanism and evolution remain to be fully understood. Different bioinformatics methods were described in this PhD thesis on splice site feature and pattern analyses; splice site prediction and alternative splicing identification, from a variety of biological data, including ESTs, arrays and deepsequencing data. The results on six projects/papers were collected, including the discovery of a surprising splicing strength pattern on genes, which is conserved in human and mouse (Chapter II); the development of a well-performed web based splice site predictor by artificial neural networks (Chapter III); and the discovery of a potential new class of very unusual intron splice sites, which could link to a "third spliceosome" or suggests a novel defense mechanism to avoid negative regulation caused by microRNAs (Chapter IV). Those studies indicate a new vision to understand splicing mechanism, splicing fidelity, the relationship between RNA processing and surveillance mechanism. Alternative splicing generates diverse protein isoforms to function at different tissues or developmental stages; mutations can trigger aberrant splicing that can cause human disease. From custom arrays and exon arrays, cell cycle-specific and cancer specific alternative splicing genes were identified (Chapter V and VI). Currently the development of next generation deep-sequencing technology offers an opportunity and a desire to explore the new and huge biological data. A number of novel alternative splicing sites were detected by deep sequencing from a brain tumor example (Chapter VII).


Everybody is welcome. Registration is not necessary.