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Understanding the fundamental impact of sex and gender on human health and disease is crucial for optimizing precision medicine. In this Review, Khramtsova, Davis and Stranger discuss the roles of sex in the genetics of complex traits, including genomic evidence for sex-dependent genetic architecture, models and molecular mechanisms of sexually differentiated phenotypes and implications for health care.
The maternal-to-zygotic transition (MZT) is the process by which the transcriptionally silent embryonic genome is gradually activated. The mechanisms underlying the MZT are not fully understood, but recent work indicates that transcriptional activators have an important role.
A study in Cell reports the development of a synthetic, modular and programmable read–write system that serves as a platform for programming epigenetic functions in mammalian cells and can aid the analysis of epigenetic regulatory mechanisms.
DNA methylation is the primary epigenetic modification in bacteria, but a lack of suitable methods has hampered its study. Now, new sequencing technologies, including single-molecule, real-time sequencing and nanopore sequencing, are providing new opportunities for studying bacterial methylomes.
Proximity-CLIP, a method that combines proximity-based protein biotinylation and UV crosslinking, profiles the transcriptome and ribonucleoproteins in subcellular compartments.
A study in Nature Genetics reports the first genome-wide significant loci for attention deficit/hyperactivity disorder and implicates biologically informative genes, such as FOXP2, as contributors to its aetiology.
This Comment discusses how data from smartphones or wearables could be used for behavioural phenotyping, knowledge that may help to reveal the genetic and environmental contributions to disease-related behavioural variation.
Improvements to livestock genetics will be critical to tackling the looming food crisis. Achieving this goal will require implementation of improved genomic technologies and better use of a wider range of genomic information.
The lack of family health history experienced by most adopted persons can represent a marked disadvantage for these individuals. Genetic testing has the potential to reliably and usefully fill informational gaps, but considerable challenges need to be addressed to assemble an economic case for affordability.
Disruptions to the epigenome occur during the pathogenesis of various human diseases. In this Review, Berdasco and Esteller describe the challenges and progress of harnessing epigenetic changes for clinical application, including for diagnostics, disease classification and therapeutics. They discuss applications to diverse diseases, such as cancer, neurological disease, immune disorders and viral infections.
A study in Cell examines the pervasiveness of a classic form of non-genetic inheritance involving transposable element DNA methylation in mice. It reports that non-genetic inheritance is likely to be the exception rather than the rule across other loci genome-wide.
A study in Nature shows the feasibility of using the CRISPR–Cas9 system for efficient and precise genotypic correction of pathogenic mutations without a donor template.
PIWI-interacting RNAs (piRNAs) have numerous crucial biological roles, particularly transposon silencing in the germ line. In this Review, the authors describe our latest understanding of piRNA biogenesis and functions across diverse species, highlighting how, despite the universal importance of transposon control, different species have evolved intriguingly distinct mechanistic routes to achieve this.
A study in Nature Medicine reports the DNA methylome and transcriptome of an individual, and suggests that changes in the methylome and transcriptome might be associated with chronic and acute health conditions, respectively.
A study in Science reports the genome-wide chromatin accessibility profiles across 23 cancer types from The Cancer Genome Atlas and notably increases the number of known gene regulatory elements.
Liquid biopsies enable non-invasive, longitudinal analysis of tumour components (including circulating tumour cells and circulating tumour DNA) in bodily fluids such as blood. However, their analytical and clinical validity must be rigorously demonstrated before they are adopted for precision oncology.
Lysine acetyltransferases (KATs) act at the interface of the cellular environment and transcription to modify levels of acetylation on target proteins. This Review highlights the roles of KATs beyond chromatin regulation, as detectors of metabolic intermediates and as integrators of signalling pathways, which enable cells to respond to and directly meet their homeostatic needs.
Transcriptome profiling in different brain regions has revealed distinct patterns of gene and non-coding RNA expression, as well as alternative splicing, in autism spectrum disorder (ASD). The authors review these ASD-associated signatures and the resulting mechanistic insights into ASD.
In this article, Payne and Wagner discuss how recent experimental studies are complementing theoretical work to enhance our understanding of the evolvability of diverse biological systems. They highlight phenotypic heterogeneity, robustness and adaptive landscape topography as causes of evolvability, and they additionally discuss evidence for whether evolvability itself can evolve.
