Mutagenesis articles from across Nature Portfolio

A single-cell-based approach allows the daughters of a damaged cell to be separately tracked following single mitotic events. This technique highlights the different ways in which ultraviolet light and reactive oxygen species cause mutagenesis.

ATGL is a key enzyme in intracellular lipolysis. Here, the authors use deep mutational scanning to define the determinants of protein interaction between ATGL and its regulatory partners, gaining insights into lipolysis mechanisms in cells.

Prime editing sensor libraries evaluate diverse genetic variants in their endogenous genomic contexts.

Authors show that a common SNP upregulates endometrial Wnt4 expression and proimplantation genes in mouse proestrus and estrus. They suggest that this increases uterine permissiveness to embryo invasion, while decreasing resistance to invasion in reproductive cancers and endometriosis.

We developed a CRISPR-based functional assay for genetic sequence variants found in human disease, probing their effects on cell proliferation, survival, motility and any physiological or pathological process measurable by fluorescence-activated cell sorting (FACS). The assay accurately assessed variant pathogenicity, drug responsiveness or resistance and mechanistic role in disease, in vitro and in vivo.

Recent advances in genome editing technologies have redefined our ability to probe and precisely edit the human genome and epigenome in vitro and in vivo. More specifically, RNA-guided CRISPR/Cas systems have revolutionized the field due to their simplicity in design and adaptability across biological systems. This Collection highlights results in CRISPR/Cas technology that increase the efficiency of precision genome editing, and allow genetic manipulation in model systems traditionally intractable to site-directed gene modification.

A microscopy-based pooled CRISPR screening approach described in Cell enables the cellular functions of thousands of genes to be assessed at remarkable phenotypic depth.

Two new papers in Nature report copy-number-based classification systems across cancer types that provide routes for personalized therapy.

New work studying the plant Arabidopsis thaliana shows that patterns of observed sequence variants are primarily influenced by biases in initial mutation occurrences rather than by the subsequent selective pressures.

Four new studies in Nature report multi-tissue analyses of somatic mutations from human donors, with insights into cell lineage commitment during embryonic development, as well as tissue-specific aspects of mutagenesis.