Mutation articles from across Nature Portfolio

How mutations shape signal processing in protein switches is not well defined. Here, the authors use GluePCA to profile thousands of PYL1 variants, uncovering modular control of sensitivity, basal activity and maximal response, novel inverter and band-stop mutations, and identifying stability‑driven mechanisms.

Here they show that extended serial somatic cell cloning imposes a threefold increase in de novo mutations compared to natural reproduction, progressively reducing birth rates and ultimately limiting clonal propagation to 58 generations.

Analysis of the asexually reproducing Amazon molly Poecilia formosa and its sexually reproducing progenitors Poecilia mexicana and Poecilia latipinna reveals that it maintains a divergent mutational landscape and has evaded functional mutational decay via gene conversion.

A statistical test identifies significant differences in mutational biases between groups of tumors, revealing carcinogen- and ancestry-associated effects that are often missed by standard mutational signature analysis approaches.

The authors in this work present a study with multiplexed gene editing that is used to assess all possible mutations at a native drug binding site. The approach yields data that predicts spontaneous resistance, that aligns with in silico predictions, and that promises to facilitate drug discovery.

Chikashi Terao recalls a paper by Loh et al., which introduced a highly sensitive algorithm to detect low-fraction chromosomal mosaicism from SNP array data, enabling large-scale mapping of clonal haematopoiesis.

Samira Musah highlights a recent study by Ward et al., who generated isogenic human induced pluripotent stem cell lines to analyse the transcriptional and epigenetic effects of SMAD2 variants identified in patients with congenital heart disease.

This Genome Watch discusses recent findings in bacterial mutational hotspots, their impact on pathogenesis and antimicrobial resistance, and how we can harness this knowledge to predict pathogen evolution.

In this Tool of the Trade article, Tim Coorens describes the development of SComatic, an algorithm enabling the detection of somatic mutations in single-cell RNA- or ATAC-sequencing data, and its use to study lineage relations and mutational signatures.

Estimating age in clonal populations is exceedingly challenging, but a study proposes a molecular clock based on genome-wide fixed somatic variations as a solution.