This Review discusses how rare-disease-causing variants in the noncoding genome impact gene regulation, why these examples are so few and how new approaches could accelerate discovery of noncoding var...

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Some fertility startups promise a future free from genetic disease. Is that scientific?

We show that, in a genomic locus with minimal complexity, the distance between promoter and enhancer modulates the frequency of clustered transcriptional bursts. Thus, besides the nucleotide sequence,...

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Pitfalls of heritable genome editing undermine theoretical benefits.

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Using carbon tracing and functional experiments, Kafkia, Pladevall-Morera, et al. show that TCA cycle rewiring underlies mouse embryo implantation and the exit from naive pluripotency. In this context...

To maintain metabolic homeostasis, the liver rapidly adjusts gene expression in response to nutrients, endotoxins, and microbial metabolites derived from the gut. Zaratiana et al. identify microbiota-responsive cis-regulatory elements in hepatocytes. Their results suggest that microbial metabolites modulate the activities of host regulatory DNA elements to shape hepatocyte transcriptional programs.

Why mammals cannot regenerate limbs like amphibians do presents a long-standing puzzle in biology. To uncover the underlying differences, we compared amputation responses of embryonic mouse (Mus musculus) and Xenopus laevis tadpole limbs. Lowering ...

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Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Synthetic super-enhancers enable specific delivery of anticancer payloads, achieving tumour elimination after a single dose in a mouse model of aggressive glioblastoma.

Study of almost 28,000 people also identifies genetic variants that raise the risk of gastrointestinal side effects from GLP-1 medications.

Abstract. Germline reprogramming is an essential process that resets the epigenome prior to gamete formation. Primordial germ cells (PGCs), the progenitors of oocytes and spermatozoa, undergo extensiv...

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The roles of the piRNA pathway in human oocytes are poorly understood. Here, the authors profile small and long RNAs in single oocytes and show that short piRNAs broadly repress transposable elements,...

Most pachytene PIWI-interacting RNAs (piRNAs) have no biological function; however, a small population enhances sperm fitness, which has led to their persistence in mammalian evolution.

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Huang, Rigau and colleagues observe major changes in how DNA is organized in early germ cells before they start developing into sperm or eggs. These results show that germline removes structural ‘memo...

The existing ENCODE registry of candidate human and mouse cis-regulatory elements is expanded with the addition of new ENCODE data, integrating new functional data as well as new cell and tissue types...

The ability to discriminate thousands of odors in our environment requires each olfactory neuron to express a single olfactory receptor from hundreds of available genes. The biochemical mechanism enfo...

Endogenous retroviruses (ERV) represent 8 to 10% of mammalian genome. While most ERV are defective, a few retroviral genes, such as the envelope syncytins, were exapted during evolution and likely contributed to the emergence of placental mammals. We have previously identified the oldest full-length …

Helmy et al. provide a collection of high-quality mouse reference genomes. They were able to resolve some of the most complex regions among mouse genomes that are involved in immune defense. These fin...

In this issue of Developmental Cell, Nosaka et al. differentiate mouse pluripotent stem cells to large germinal vesicle-stage oocyte-like cells in the absence of ovarian somatic cells. Their paradigm ...

Telomere-to-telomere assemblies of two mouse inbred strains, C57BL/6J and CAST/EiJ, offer improvements over the current mouse reference genome by adding telomere and centromere sequences that lead to ...

The reshuffling of genomic variation from multiple origins is an important contributor to phenotypic diversification, yet insights into the evolutionary trajectories of this combinatorial process and ...

Sex cells made from scratch could revolutionize human reproduction. But researchers are struggling to translate promising results in mice into benefits for humans.

A combination of whole-genome NanoSeq with deep whole-exome and targeted NanoSeq is used to accurately characterize mutation rates and genes under positive selection in sperm cells.