Multitasking for base editors

Nature Reviews Genetics, Published online: 23 June 2020; doi:10.1038/s41576-020-0261-9 Three new studies in Nature Biotechnology combine the adenine and cytosine deaminase activities of single base editors to generate dual base editor systems for combinatorial editing in human cells.

CTCF is dispensable for immune cell transdifferentiation but facilitates an acute inflammatory response

Nature Genetics, Published online: 08 June 2020; doi:10.1038/s41588-020-0643-0 CTCF is dispensable for transdifferentiation of B cells into induced macrophages despite widespread loss of topologically associating domains. CTCF depletion impairs upregulation of inflammatory genes after endotoxin exposure by destabilizing promoter–enhancer interactions.

A mouse with history

Nature Reviews Genetics, Published online: 26 May 2020; doi:10.1038/s41576-020-0252-x A new study in Cell describes the CRISPR array repair lineage tracing (CARLIN) engineered mouse line that genomically encodes all the components for CRISPR-based lineage tracking at single-cell resolution.

Tracking genetic discrimination

Nature Genetics, Published online: 06 May 2020; doi:10.1038/s41588-020-0632-3 The promise of personalized medicine lies in the tailored treatment of individual patients, a process requiring detailed phenotypic and genetic information. Although the widespread collection of such data can help to advance

Chromosome structure at micro-scale

Nature Reviews Genetics, Published online: 28 April 2020; doi:10.1038/s41576-020-0243-y Two studies in Molecular Cell report fine-scale structural profiles of mammalian genomes using Micro-C, indicating that fine chromosomal structure is regulated by diverse transcription-related features.

Better together

Nature Reviews Genetics, Published online: 15 April 2020; doi:10.1038/s41576-020-0238-8 Just as humans thrive from being part of a community, genetics and genomics benefit from interdisciplinary collaboration and knowledge integration.

Diverse human genomes

Nature Reviews Genetics, Published online: 08 April 2020; doi:10.1038/s41576-020-0235-y A study in Science shows that anthropologically informed approaches to genome sequencing can provide a fuller understanding of human genetic variation, including new insights into how past events have led to

CRISPR screens beyond Cas9

Nature Reviews Genetics, Published online: 31 March 2020; doi:10.1038/s41576-020-0232-1 Two new studies in Nature Biotechnology demonstrate the feasibility of functional genomics systems beyond Cas9: a combinatorial DNA editing system involving both Cas9 and Cas12a, and an RNA-targeted system based on

Hereditary Angioedema

Hereditary angioedema is a rare, potentially life-threatening disorder characterized by attacks of cutaneous and submucosal swelling. Quincke first described its clinical presentation, and Osler’s recognition of the autosomal dominant inheritance pattern followed in 1888. The initial name of the…

Repressors of healthy ageing

Nature Reviews Genetics, Published online: 10 March 2020; doi:10.1038/s41576-020-0226-z RNA interference screening in Caenorhabditis elegans has identified two repressive epigenetic regulators of age-related behavioural performance that are conserved in mammals.

Silencers in the spotlight

Nature Genetics, Published online: 24 February 2020; doi:10.1038/s41588-020-0583-8 Efforts to systematically characterize silencers in animal genomes have been limited. Two studies in this issue of Nature Genetics bring silencers into the spotlight, identifying these elements genome wide in human and

Modified bugs boost bee health

Nature Reviews Genetics, Published online: 19 February 2020; doi:10.1038/s41576-020-0220-5 Pathogens are wreaking havoc on bee populations. A study in Science describes how bacteria in the guts of bees can be engineered to protect their hosts from two particular pests, deformed

A systems approach to infectious disease

Nature Reviews Genetics, Published online: 14 February 2020; doi:10.1038/s41576-020-0212-5 This Review outlines a broad, universal framework for systems biology applied to infectious disease research. From study design and omics data collection, analysis, visualization and interpretation to translational outcomes, the authors

Pan-genomics in the human genome era

Nature Reviews Genetics, Published online: 07 February 2020; doi:10.1038/s41576-020-0210-7 Although single reference genomes are valuable resources, they do not capture genetic diversity among individuals. Sherman and Salzberg discuss the concept of ‘pan-genomes’, which are reference genomes that encompass the genetic

Necessary voices

Nature Genetics, Published online: 05 February 2020; doi:10.1038/s41588-020-0585-6 Given that it is based on heredity and has the ability to trace connections, genetics as a scientific discipline should be among those most attuned to diversity and global perspectives. Indigenous communities

Prime Time for Genome Editing?

In 1902, Garrod discovered that a difference in human metabolism (alkaptonuria) can be transmitted through the germline in accordance with Mendel’s first law. A half century later, Ingram discovered the molecular basis for such transmission in human disease — specifically,

Prime Time for Genome Editing?

In 1902, Garrod discovered that a difference in human metabolism (alkaptonuria) can be transmitted through the germline in accordance with Mendel’s first law. A half century later, Ingram discovered the molecular basis for such transmission in human disease — specifically,

A means to an end for transcription?

Nature Reviews Genetics, Published online: 29 January 2020; doi:10.1038/s41576-020-0213-4 Two new studies in Molecular Cell report a role for antisense oligonucleotides in inducing transcriptional termination, with important implications for the interpretation of functional studies of long non-coding RNAs.

Nature Genetics, Published online: 07 January 2020; doi:10.1038/s41588-019-0537-1 Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

When the CAR Targets Scar

Deposition of extracellular matrix in disease-stressed tissue occurs in diverse organs and disease contexts. The resulting fibrosis may have short-term adaptive features, but it impairs tissue function over time. In the heart, fibrosis is commonly divided into two types: reactive

Genetic T-type calcium channelopathies

T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disorders, schizophrenia, motor neuron disorders

Exons as enhancers

Nature Reviews Genetics, Published online: 11 December 2019; doi:10.1038/s41576-019-0207-2 A study in Cell identifies a mechanism by which exon splicing can increase gene expression through the activation of weak upstream promoters.

Contact maps and brain disease risk

Nature Reviews Genetics, Published online: 10 December 2019; doi:10.1038/s41576-019-0206-3 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

From a distance — gene regulation in plants

Nature Reviews Genetics, Published online: 29 November 2019; doi:10.1038/s41576-019-0201-8 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

The mutational footprints of cancer therapies

Nature Genetics, Published online: 18 November 2019; doi:10.1038/s41588-019-0525-5 Analysis of whole-genome sequences from more than 3,500 metastatic tumors identifies mutational signatures associated with different chemotherapies and provides estimates of the relative contribution of different treatments to tumor mutational burden.

The genetics of human ageing

Nature Reviews Genetics, Published online: 05 November 2019; doi:10.1038/s41576-019-0183-6 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

CRISPR screens come into sight

Nature Reviews Genetics, Published online: 28 October 2019; doi:10.1038/s41576-019-0192-5 A new study in Cell reports a mammalian genetic screening strategy that combines CRISPR libraries with in situ sequencing to read out both complex cellular phenotypes and genetic perturbations using microscopy.

A prime alternative

Nature Reviews Genetics, Published online: 24 October 2019; doi:10.1038/s41576-019-0191-6 A new genome editing strategy called prime editing uses a catalytically impaired Cas9 fused to an engineered reverse transcriptase to write desired genetic sequence information directly into a target locus.

Building machines with DNA molecules

Nature Reviews Genetics, Published online: 21 October 2019; doi:10.1038/s41576-019-0175-6 This Review discusses the potential of DNA for creating machines that are both encoded by and built from DNA molecules. Alongside an overview of DNA nanostructure assembly, the authors describe recent

An adaptive walk in the park

Nature Reviews Genetics, Published online: 04 October 2019; doi:10.1038/s41576-019-0182-7 A study in Nature retraces the convergent evolution of resistance to cardiac glycosides in insects, pinpointing the adaptive alleles and their functional consequences.

Mapping worm embryogenesis

Nature Reviews Genetics, Published online: 23 September 2019; doi:10.1038/s41576-019-0179-2 A study in Science describes the generation of a lineage-resolved single-cell transcriptome atlas for Caenorhabditis elegans embryos. This resource provides insight into the transcriptional changes underlying cell fate decisions.

Making Asthma Crystal Clear

Charcot–Leyden crystals have been observed in the airway mucus of patients with allergic airway disease since the 19th century, but their role in the pathogenesis of allergy has been unclear. Charcot–Leyden crystals and lysophospholipase are abundant in eosinophils and basophils,

Diversity matters

Nature Reviews Genetics, Published online: 16 August 2019; doi:10.1038/s41576-019-0162-y For genomics to fulfil its potential of improving human health, diversity and inclusion must be recognized as essential catalysts of research success.

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