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Two new studies report advances for nanopore-based long-read sequencing for characterizing complex human transcriptomes and for analysing human repetitive DNA regions.
Two papers in Nature Plants provide evidence that plants, like mammals, regulate gene expression from long-range cis-regulatory elements (CREs). Plant CREs are widespread and have distinct evolutionarily conserved chromatin characteristics that are predictive of their effect on gene expression.
A new study in Science has mapped regulatory elements for major cell types of the human brain to help elucidate the transcriptional mechanisms underlying their developmental and functional properties in health and disease.
A large-scale single-cell genomics study of planktonic bacteria and archaea that inhabit the surface ocean broadens insights into the heterogeneity and genomic composition of this marine microbiome.
A new study has identified genetic determinants of mosaic loss of chromosome Y (LOY) in leukocytes that are also associated with increased risk of various non-haematological cancers, suggesting LOY in blood is a biomarker of genome instability in other tissues.
Activating transcriptional regulatory elements have traditionally been categorized into promoters, which define transcription start sites, and enhancers, which act distally to stimulate transcription. In this Review, Andersson and Sandelin discuss the latest findings from methodologies for profiling and testing transcriptional regulatory elements at scale. They explain how the data support an updated, nuanced model that accounts for the numerous overlapping molecular properties of promoters and enhancers.
Bringing together different strands of genetic research, including results from recent large-scale genome-wide association studies relevant to human ageing, the authors highlight how genetics can further our understanding of the underlying mechanisms of ageing.
Recent methodological advances have driven the identification and characterization of cis-acting long non-coding RNAs (lncRNAs), which modulate target gene expression through various mechanisms and operate at various genomic distances. This Review discusses recent insights into the evolution and functions of these cis-acting lncRNAs.
Incessant encounters of all cellular life forms with mobile genetic elements (MGEs) have driven the evolution of diverse defence mechanisms, including CRISPR–Cas and restriction–modification systems. In this Perspective, Koonin, Makarova, Wolf and Krupovic describe the surprisingly intricate interplay between MGEs and host defence systems. Not only do defence systems commonly show high horizontal mobility but many molecular components are ‘guns for hire’ that have been co-opted by defence systems from MGEs and vice versa.