Beyond genetics for cancer evolution

Nature Reviews Genetics, Published online: 05 January 2022; doi:10.1038/s41576-021-00446-5 A new study in Nature uses mouse models of acute myeloid leukaemia to demonstrate that non-genetic transcriptional signatures are mitotically heritable determinants of clonal fitness that influence cancer progression.

Laterally mobile chromosomes

Nature Reviews Genetics, Published online: 18 November 2021; doi:10.1038/s41576-021-00437-6 A study in Nature Communications shows that horizontal transfer of bacterial chromosomes by phage-mediated lateral transduction renders them more mobile than many classically defined mobile genetic elements, including plasmids and transposons.

The language of genetics

Nature Genetics, Published online: 05 November 2021; doi:10.1038/s41588-021-00965-1 The language used in genetic and medical research to describe populations has a fraught history, and current practices must be sensitively considered when reporting on genetic cohorts and analyses.

The language of genetics

Nature Genetics, Published online: 05 November 2021; doi:10.1038/s41588-021-00965-1 The language used in genetic and medical research to describe populations has a fraught history, and current practices must be sensitively considered when reporting on genetic cohorts and analyses.

A vast potential genome editor toolbox

Nature Reviews Genetics, Published online: 25 October 2021; doi:10.1038/s41576-021-00429-6 Two recent studies demonstrate that putative nucleases encoded by IS200/IS605 family transposons are programmable RNA-guided DNA endonucleases, which could represent a new source of genome-editing enzymes for biotechnological applications.

Obesity and Gαs Variants

Mendes de Oliveira and colleagues now report in the Journal that variants in GNAS exons that encode the stimulatory G-protein alpha subunit (Gαs) have a strong genetic association with severe obesity, owing to reduced signaling by the melanocortin 4 receptor

Mutational synergy during leukemia induction remodels chromatin accessibility, histone modifications and three-dimensional DNA topology to alter gene expression

Nature Genetics, Published online: 23 September 2021; doi:10.1038/s41588-021-00925-9 Mice bearing mutations in Flt3-ITD and Npm1c, which are commonly found in acute myeloid leukemia, are used to characterize the cooperative effects of these cancer drivers on the cellular epigenome and three-dimensional

A new era in functional genomics screens

Nature Reviews Genetics, Published online: 20 September 2021; doi:10.1038/s41576-021-00409-w In this Review, Przybyla and Gilbert describe the latest approaches for CRISPR-based functional genomics screens, including the adoption of single-cell transcriptomic read-outs and applications in characterizing the non-coding genome and mapping

Epigenome plasticity in plants

Nature Reviews Genetics, Published online: 15 September 2021; doi:10.1038/s41576-021-00407-y The authors review intra-individual and inter-individual plant epigenome variation during development and in response to environmental changes, including stress. They also discuss functions of epigenome plasticity and epigenome editing technologies that

CRISPR systems go mini

Nature Reviews Genetics, Published online: 14 September 2021; doi:10.1038/s41576-021-00419-8 Three recent studies report the generation of miniature CRISPR systems based on compact Cas effector proteins, showing high efficiency of genome editing or transcriptional regulation in mammalian cells.

Testing the super-enhancer concept

Nature Reviews Genetics, Published online: 03 September 2021; doi:10.1038/s41576-021-00398-w In this Viewpoint, five experts discuss our biological understanding of super-enhancers, how we can responsibly study their functions, and their opinions on whether names for enhancer clusters are an informative reflection

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause

Nature Genetics, Published online: 12 August 2021; doi:10.1038/s41588-021-00906-y Sequence analysis identifies gain-of-function somatic mutations in GNA11 or GNAQ in CTNNB1-mutant aldosterone-producing adenomas. Most patients with these mutations presented during puberty, pregnancy or menopause, with elevated LHCGR expression.

Turning Purple with Pain

Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information by sharing relevant background and reasoning with the reader (regular type). The authors’ commentary follows.

Gene drives gaining speed

Nature Reviews Genetics, Published online: 06 August 2021; doi:10.1038/s41576-021-00386-0 In this Review, Ethan Bier discusses how several impactful technical advancements, particularly involving CRISPR-based methods, are providing a diverse toolkit of gene-drive systems for the control of populations such as insect

To Scar or Not to Scar

Most human skin wounds heal with scarring; some heal with hypertrophic scarring (Fig. 1A), and a small number heal with keloids from fibroblast hyperplasia (Fig. 1B). Scars — especially those resulting from thermal and chemical burns — can lead to

To Scar or Not to Scar

Most human skin wounds heal with scarring; some heal with hypertrophic scarring (Fig. 1A), and a small number heal with keloids from fibroblast hyperplasia (Fig. 1B). Scars — especially those resulting from thermal and chemical burns — can lead to

Simultaneous disruption of PRC2 and enhancer function underlies histone H3.3-K27M oncogenic activity in human hindbrain neural stem cells

Nature Genetics, Published online: 22 July 2021; doi:10.1038/s41588-021-00897-w The oncohistone H3.3-K27M decreases chromatin accessibility and H3K27ac at some active enhancers and downregulates nearby neurodevelopmental genes, while increasing transcriptional repression of a subset of PRC2-bound neurodevelopment genes.

Oncogenesis by phase separation

Nature Reviews Genetics, Published online: 09 July 2021; doi:10.1038/s41576-021-00396-y A new study by Ahn et al. shows that chimeric proteins containing intrinsically disordered regions mediate oncogenesis by inducing liquid–liquid phase separation and thereby affecting chromatin conformation and transcription.

Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer’s disease

Nature Genetics, Published online: 08 July 2021; doi:10.1038/s41588-021-00894-z An integrative analysis of single-nucleus assay for transposase-accessible chromatin with sequencing and RNA sequencing in normal and Alzheimer’s disease brain tissue identifies cell-type-specific cis-regulatory elements and candidate target genes at disease-associated loci.

Sugar-coated RNAs

Nature Reviews Genetics, Published online: 24 June 2021; doi:10.1038/s41576-021-00388-y A study in Cell describes the discovery of a conserved set of small non-coding RNAs that are glycosylated in diverse cell types. These glycoRNAs are found at the surface of cells,

An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability

Nature Genetics, Published online: 13 May 2021; doi:10.1038/s41588-021-00864-5 A multi-tissue atlas of alternative polyadenylation (APA) quantitative trait loci (3′aQTLs) identifies approximately 0.4 million common genetic variants associated with the APA of target genes. Approximately 16% of trait-associated variants colocalize with

Histone acetylation dynamics modulates chromatin conformation and allele-specific interactions at oncogenic loci

Nature Genetics, Published online: 10 May 2021; doi:10.1038/s41588-021-00842-x Enhancer–promoter three-dimensional interactions at oncogenic loci are modulated by H3K27ac dynamics. Enhancer hijacking mediated by chromosomal translocations leads to distinct chromatin states, intrachromosomal interactions and allele-specific gene expression.

Inside and Out

Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information by sharing relevant background and reasoning with the reader (regular type). The authors’ commentary follows.

We Shall See?

Our empirical experience of the world teaches us that time cannot be taken back. We may perhaps slow it down, but we cannot reverse it. This notion becomes very obvious with aging. Once time passes, there is no way to

The puzzling guppy Y chromosome

Nature Reviews Genetics, Published online: 04 May 2021; doi:10.1038/s41576-021-00369-1 Deborah Charlesworth reflects on a 1970 publication by Haskins et al., a study on guppy Y chromosomes that beautifully demonstrates the use of classical genetics and remains intriguing to this day.

Bone-free ancient DNA

Nature Reviews Genetics, Published online: 28 April 2021; doi:10.1038/s41576-021-00368-2 A new study in Science reports the extraction and analysis of ancient hominid nuclear DNA from Paleolithic sediments. This advance paves the way to a fuller picture of human evolution by

From LD-based mapping to GWAS

Nature Reviews Genetics, Published online: 23 April 2021; doi:10.1038/s41576-021-00366-4 Cisca Wijmenga reflects on a seminal publication by Houwen et al. that set the stage for genome-wide association studies and inspired her to dedicate her lab to complex trait genetics.

Guiding authors to Open Access

Nature Genetics, Published online: 08 April 2021; doi:10.1038/s41588-021-00853-8 Guided Open Access is a new publishing option offered at Nature Genetics. Authors can submit once and be simultaneously considered by three journals. Editorial collaboration and a single submission system combine to

Base Editing in Progeria

“How much longer?” is a question all too familiar to parents. This is also a question that scientists ask themselves when trying to find a truly effective treatment for patients with the Hutchinson–Gilford progeria syndrome (HGPS) and other genetic diseases.

The Polycomb landscape in mouse development

Nature Genetics, Published online: 05 April 2021; doi:10.1038/s41588-021-00833-y Polycomb-group proteins assemble into two primary complexes—Polycomb repressive complex (PRC) 1 and 2—that safeguard cell fate by repressing gene transcription. Two new studies explore the PRC1 landscape during the transition from gametes

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