Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

9 May 2017

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Uncovering mutational and DNA repair processes in the search for cis-regulatory mutations in cancer genomes

Jason Wong
Jason Wong Lab / Lowy Cancer Research Center, UNSW

Mutations that directly alter protein function have long been associated with cancer. Yet, regions that code for proteins make up less than 2% of the human genome. In recent years, it has become feasible to examine the cancer causing role of mutations within the remaining 98% of the non-coding genome. I will present our group's efforts in the search for cis-regulatory mutations - somatic mutations that cause the dysregulation of gene expression by altering the sequence of gene regulatory elements in the non-coding genome. Significantly, I will show how this led us to make an unexpected discovery of a novel mechanism involving transcription initiation and nucleotide excision repair which we have found to govern the frequency of somatic mutations at gene promoters (Perera et al. Nature 2016). Finally, I will present our recent work on the impact of this mechanism at CTCF binding sites and its implications in cancer development.

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