Mutation articles from across Nature Portfolio

Cushing syndrome (CS) is defined by signs and symptoms caused by hypercortisolism. In this Primer, Nieman and colleagues outline the causes of endogenous CS and discuss epidemiology, pathophysiology, diagnosis and management of different aetiologies of endogenous CS.

A study reports optimized mitochondrial base editors with reduced off-target effects to facilitate the generation of mouse models of human mitochondrial diseases.

MSX1 phase separation are associated with cleft palate. Here the authors show that MSX1 phase separation, triggered by its N-terminal intrinsically disordered region and regulated by PRMT1-catalyzed methylation, is a vertebrate-conserved mechanism for embryonic palatal development.

Mutations in polyketide synthase (PKS) disrupt psittacofulvin pigment production in parrots, altering feather hues. Seven unique variants in multiple conserved domains reveal a shared mechanism across four species and underscore PKS’s multidomain role in parrot coloration.

Persistent DNA lesions can occur throughout the human lifespan and can remain in the genome of affected cells for several years and generate a substantial proportion of the mutational burden.

Splice-site creating variants (SSCVs) are considered promising candidates for treatment with antisense oligonucleotides. Here, the authors present a novel framework to screen for SSCVs solely using transcriptome data and apply it to 322,072 publicly available transcriptomes, cataloging 30,130 SSCVs.

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.

Reporting in Science, a team from Google DeepMind describe AlphaMissense, a tool to predict the pathogenicity of missense variants.

A method to identify and analyze clonal hematopoiesis in clinical blood samples at single-cell resolution reveals cell-intrinsic and paracrine effects of DNMT3A mutations in circulating monocytes, T cells and natural killer cells in the setting of heart failure.