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RNA:DNA hybrids that form across genomes control a wide range of biological processes. A new study shows that N6-methyladenosine (m6A) modification on the RNA moieties regulates the formation and genome integrity of these hybrids. This finding opens a new avenue of research on how RNA modifications (the ‘epitranscriptome’) can help control genome maintenance.
A new study presents a powerful experimental approach, CRISPRi-FlowFISH, for mapping regulatory interactions, and uses it to characterize thousands of putative enhancer–gene pairs. The results suggest that most current approaches for predicting enhancer–gene interactions perform poorly, but a simple mathematical model combining distance with enhancer activity shows promise.
Two genetic studies uncover how domestication changed fruit quality traits in melon and watermelon. The studies combine population genomic and quantitative genetic tools to study crop evolution and provide breeders with comprehensive variation maps.
A new study identifies germline NPM1 mutations in people with dyskeratosis congenita. These NPM1 mutations inhibit ribosomal RNA 2´-O-methylation by decreasing the binding of the rRNA methyltransferase FBL to small nucleolar RNAs. Thus, NPM1 influences ribosomal functions via epitranscriptomic regulation.
Common genetic variants increase the risk of schizophrenia, but the downstream biological mechanisms are largely unknown. A new study demonstrates that schizophrenia risk genes cause neuronal dysfunction and have synergistic effects on gene expression.
Inferring adaptation, migration and population history would be profoundly easier if we could use the genomes that we sequence to infer the true genealogical history of each locus. Two new papers bring us close to achieving this goal.
Far from being junk DNA, the pervasive retrotransposons that populate the genome have a powerful capacity to influence genes and chromatin. A new study demonstrates how the transcription of one such element, HERV-H, can modify the higher-order 3D structure of chromatin during early primate development.
Chromatin loops and domains are major organizational hallmarks of chromosomes. New work suggests, however, that these topological features of the genome are poor global predictors of gene activity, raising questions about their function.
Although human genetics can help identify new drug targets, the best way to prioritize genes as therapeutic targets is uncertain. A new study describes a framework to prioritize potential targets by integrating genome-wide association data with genomic features, disease ontologies and network connectivity.
Fhb1 is the most effective and most widely deployed source of durable resistance against Fusarium graminearum, a devastating toxin-producing fungal pathogen affecting wheat. Two new studies identify Fhb1 as an atypical disease resistance gene; this discovery is expected to fuel discussion on the molecular nature of this important disease-resistance locus.
Genetics has played a key role in understanding the relationship between the DNA sequence encoding a protein and the protein’s three-dimensional structure. Two new studies present similar analytical approaches to predict three-dimensional structure on the basis of genetic interaction data.
A Perspective on the future of agricultural genebank collections discusses how the use of molecular passport data can help facilitate genomic selection and accelerate crop breeding.
Epigenetic heterogeneity underlies the diversity of cell states found in health and disease. A new study presents a method for profiling of histone modifications in single cells and applies it to identify rare chromatin states, possibly predisposed to drug resistance, within patient-derived tumor xenografts.
The conserved ligand–receptor pair CLAVATA1–CLAVATA3, which maintains homeostasis in shoot apical meristems, responds differently to perturbation in tomato, Arabidopsis and maize. Active compensation occurs in CLE signaling peptides in tomato, but compensation is passive in Arabidopsis.
This Perspective discusses how best to interpret pLI, a measure widely used to identify genes that are intolerant to a single copy of a truncating mutation, by relating this and related measures to the underlying population-genetic theory.
More than one dozen hereditary ataxias are caused by repeat expansions. A newly discovered expansion may be the first known common genetic cause of late-onset ataxia.
Resolving variant-to-function relationships is a key challenge faced by human geneticists. A new study combining statistical fine-mapping with cell-type-specific functional annotations advances the understanding of the regulatory consequences of genetic variants associated with variations in blood-cell traits.
Transcriptome-wide association studies (TWAS) prioritize candidate causal genes at GWAS loci. This Perspective discusses the challenges to TWAS analysis, caveats to interpretation of results and opportunities for improvements to this class of methods.
This Perspective discusses scientific and ethical considerations regarding the clinical use of polygenic risk scores, highlighting the pressing need to diversify cohorts for genetic studies beyond European-ancestry populations.
The origin of strawberry is truly global, involving both natural processes and human intervention. The strawberry genome sequence provides support for an influential hypothesis of genome dominance.