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Biology subjects

Klein, Z. P.

Publications and source records attributed to Klein, Z. P..

2 recordsLinked to original sources

Topoisomerase IIb binding underlies frequently mutated elements in cancer genomes

Type-II topoisomerases resolve topological stress in DNA through controlled double-strand breaks. While TOP2A is a chemotherapy target in proliferating cells, the ubiquitously expressed TOP2B is a potential off-target. Here we explore roles of TOP2B in mutagenesis by generating DNA-binding maps of TOP2B, CTCF, and RAD21 in human cancer samples and analysing these maps for driver mutations and mutational processes in 6500 whole cancer genomes. TOP2B-CTCF-RAD21 and TOP2B-RAD21 sites are enriched in somatic mutations and structural variants (SVs), especially at evolutionary conserved sites displaying high transcription and long-range chromatin interactions. TOP2B binding underlies SVs and hotspot mutations in cancer-driving genes such as TP53, MYC, FOXA1, and VHL, and many cis-regulatory elements. We show that the TOP2B-bound mutational hotspot at RMRP drives tumor initiation and growth in vivo. These data highlight TOP2B as a protector of the genome from topological challenges whose aberrant activity promotes driver and passenger mutations in cancer genomes.

cancer biology↗

Directional integration and pathway enrichment analysis for multi-omics data

Omics techniques generate comprehensive profiles of biomolecules in cells and tissues. However, a holistic understanding of the data requires joint multi-omics analyses that are challenging. Here we present DPM, a data fusion method for combining multiple omics datasets using directionality and significance estimates of genes, transcripts, or proteins. DPM allows users to define how the input datasets are expected to interact directionally, reflecting the initial experimental design or regulatory relationships between the datasets. DPM statistically prioritises genes and pathways that change consistently across the datasets, while penalising those violating the constraints. Joint analyses of transcriptomic, proteomic, DNA methylation, and clinical datasets of cancer samples demonstrate how directional integration identifies genes and pathways modulated across omics datasets, highlights those with inconsistent evidence, and reveals candidate biomarkers with prognostic signals in multiple datasets. DPM is implemented in the ActivePathways method and provides a general framework for testing detailed hypotheses in multi-omics data.

bioinformatics↗