Martin Bushell

Abstract DNA double-strand break (DSB)-induced mutagenesis is a critical contributor to a variety of human diseases; however, the ability to quantify these mutations is limited by the low sensitivity of current methodologies. Here we describe iMUT-seq, a technique that profiles DSB-induced mutations at high sensitivity and single-nucleotide resolution around endogenous DSBs, by coupling high-depth sequencing to restriction enzyme-inducible DSBs in human cell lines.

Genome Biology volume 22, Article number: 284 (2021) Cite this article Abstract Background Regulation of protein output at the level of translation allows for a rapid adaptation to dynamic changes to the cell’s requirements. This precise control of gene expression is achieved by complex and interlinked biochemical processes that modulate both the protein synthesis rate and stability of each individual mRNA. A major factor coordinating this regulation is the Ccr4-Not complex.

Abstract Effective DNA repair is essential for cell survival: a failure to correctly repair damage leads to the accumulation of mutations and is the driving force for carcinogenesis. Multiple pathways have evolved to protect against both intrinsic and extrinsic genotoxic events, and recent developments have highlighted an unforeseen critical role for RNA in ensuring genome stability.