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Merly C. Vogt recalls a seminal paper by Greer et al., who demonstrated the transgenerational inheritance of longevity, a complex trait, in Caenorhabditis elegans by manipulating the trimethylation of histone H3 lysine 4 (H3K4me3) in the parental generation.
Mosaic variegated aneuploidy is a rare condition in which the copy number of different chromosomes varies across some cells within an individual. In this Review, the authors discuss the genetic underpinnings and clinical manifestations of this condition and relate these findings to the consequences of chromosomal instability more broadly.
In this Review, the authors provide an overview of the roles of individual histone variants in multiple processes, including gene regulation, DNA replication and DNA repair, and the cellular consequences of their dysfunction.
Duttke et al. show that transcription factors have position-dependent effects relative to their distance from the transcription start site, which suggests that a 'spatial grammar' could be used to encode multiple gene-regulatory programmes.
In this Review, Smith et al. describe DNA methylation landscapes that emerge over mammalian development and within key disease states, as well as how different methyltransferases interface with histone modifications and other proteins to create and maintain them.
In this Tools of the Trade article, Pablo Librado describes a novel computational method to infer the time between successive generations from genomic data, including ancient genomes, which offers new insights into the timing of evolutionary and demographic events.
Chromosomal instability (CIN) drives cancer progression through diverse mechanisms. The authors review the molecular consequences of CIN in advanced cancer, such as genomic and phenotypic heterogeneity and cancer cell-intrinsic inflammation.
Advances in genomic technologies have enabled investigations into a wide range of species. In this Review, the authors describe recent studies in both non-model and model organisms that illustrate the diversity of animal sex chromosomes with respect to their evolutionary histories and mechanistic roles in sex-determination systems.
Two studies in Nature reveal the mechanistic and structural properties of a family of mobile genetic elements that can be reprogrammed to engineer genome modifications.
RNA-binding proteins regulate the lifecycle of RNA, and their dysregulation is associated with diseases such as cancer and neurodegeneration. Using methods based on ultraviolet crosslinking followed by immunoprecipitation (CLIP), we can now begin to decode the mechanisms of the interactions between RNA-binding proteins and RNA. This Review discusses recent insights from and future applications of these methodologies.
In this Tools of the Trade article, Andrey Tvardovskiy and Saulius Lukauskas introduce the web resource MARCS, which offers a set of visualization tools to explore chromatin regulatory circuits from either a protein- or modification-centred perspective.
Single-cell, spatial and multi-omic profiling technologies generate large-scale data that reveal the output of genome-scale experiments across diverse cells, tissues and organisms. Cole Trapnell reviews the underlying core statistical challenges that need to be tackled to harness the power of these technologies and advance our understanding of gene function in health and disease.
In this Review, Pfeifer and Jin discuss currently available methods for genome-wide mapping of DNA damage and rare mutations and illustrate how these technologies are being used to study mechanisms of mutagenesis linked to the aetiology of human diseases.
In this Review, Pinto and Bhatt provide an overview of DNA-sequencing and RNA-sequencing approaches that can be used to study the composition, structure, and function of microbiomes and discuss the biological insights they provide.
Petrazzini et al. leverage exome sequencing data and a novel machine learning-based marker to identify rare and ultra-rare coding variants associated with coronary artery disease.