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Biology subjects

Poujade, F.-A.

Publications and source records attributed to Poujade, F.-A..

2 recordsLinked to original sources

WSB-1 regulates DNA repair and the response to DNA damage response inhibitors in breast cancer

Tumour hypoxia is a poor prognostic factor and linked with metastatic spread and treatment resistance in most solid tumours, including breast cancer. We previously showed hypoxia-regulated E3 ligase WSB-1s association with poor prognosis in breast cancer. Here, we evaluated the role of WSB-1 in DNA repair regulation in breast cancer, and whether these phenotypes can be exploited therapeutically. WSB-1 knockdown led to transcriptome-wide DNA repair factor upregulation, including homologous recombination (HR) factors BRCA1and RAD51. Reciprocally, WSB-1 overexpression led to downregulation of these repair factors and decreased DNA repair capacity. Patient gene expression datasets analyses also showed an inverse correlation between WSB1 expression vs DNA repair and HR pathways. HR-deficient cancers, including BRCA1/2-deficient breast cancers, are extremely sensitive to PARP inhibitors, a phenotype described as BRCAness. We therefore hypothesised if high WSB-1 expression could be similarly exploited therapeutically. WSB-1 overexpression alone radiosensitised cells and led to increased Olaparib (PARP inhibitor) and Berzosertib (ATR inhibitor) sensitivity in vitro. Our study indicates that WSB-1 expression in breast cancer is associated with modulation of HR factor expression, and we propose that elevated WSB-1 expression could be considered as a potential BRCAness biomarker and promote increased sensitivity to DNA repair targeted therapy in these patients.

cancer biology↗

High-resolution regulatory maps connect cardiovascular risk variants to disease related pathways

Genetic variant landscape of cardiovascular disease (CVD) is dominated by non-coding variants among which many occur within putative enhancers regulating the expression levels of relevant genes. It is crucial to assign the genetic variants to their correct gene both to gain insights into perturbed functions and better assess the risk of disease. In this study, we generated high-resolution genomic interaction maps (~750 bases) in aortic endothelial, smooth muscle and THP-1 macrophages using Hi-C coupled with sequence capture targeting 25,429 features including variants associated with CVD. We detected interactions for 761 CVD risk variants obtained by genome-wide association studies (GWAS) and identified novel as well as established functions associated with CVD. We were able to fine-map 331 GWAS variants using interaction networks, thereby identifying additional genes and functions. We also discovered a subset of risk variants interacting with multiple promoters and the expression levels of such genes were correlated. The presented resource enables functional studies of cardiovascular disease providing novel approaches for its diagnosis and treatment.

genomics↗