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Expression profiling in ovarian cancer reveals coordinated regulation of BRCA1/...
Custódio, Noélia; Savisaar, Rosina; Carvalho, Célia; Bak-Gordon, Pedro; Ribeiro, Maria I.; Almeida-Tavares, Joana; Nunes, Paula B.; Peixoto, CarolinaPredictive biomarkers are crucial in clarifying the best strategy to use poly(ADP-ribose) polymerase inhibitors (PARPi) for the greatest benefit to ovarian cancer patients. PARPi are specifically lethal to cancer cells that cannot repair DNA damage by homologous recombination (HR), and HR deficiency is frequently associated with BRCA1/2 mutations. Genetic tests for BRCA1/2 mutations are currently used in the cl...
Transcription and splicing dynamics during early Drosophila development
Prudêncio, Pedro; Savisaar, Rosina; Rebelo, Kenny; Martinho, Rui Goncalo; Carmo-Fonseca, MariaWidespread cotranscriptional splicing has been demonstrated from yeast to human. However, most studies to date addressing the kinetics of splicing relative to transcription used either Saccharomyces cerevisiae or metazoan cultured cell lines. Here, we adapted native elongating transcript sequencing technology (NET-seq) to measure cotranscriptional splicing dynamics during the early developmental stages of Droso...
Evidence in disease and non-disease contexts that nonsense mutations cause alte...
Abrahams, Liam; Savisaar, Rosina; Mordstein, Christine; Young, Bethan; Kudla, Grzegorz; Hurst, Laurence D.Transcripts containing premature termination codons (PTCs) can be subject to nonsense-associated alternative splicing (NAS). Two models have been evoked to explain this, scanning and splice motif disruption. The latter postulates that exonic cis motifs, such as exonic splice enhancers (ESEs), are disrupted by nonsense mutations. We employ genome-wide transcriptomic and k-mer enrichment methods to scrutinize thi...