Machine consisting of pistons and cogs showing forces that produce RNA

Mechanical regulation of chromatin and transcription

  • Sirio Dupont
  • Sara A. Wickström
Review Article

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    Gregor Johann Mendel, considered by many the ‘father of modern genetics’, was born 200 years ago, on 20 July 1822. In commemoration of this milestone, this Nature Collection brings together articles that explore the origins of genetics and reflect on Mendel’s legacy, which continues to shape the field to this day.

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    • Microbiome epidemiology associates microbial community features with health outcomes, traits or exposures in human host populations. In this Review, the authors discuss ways in which various microbiome features at varying levels of resolution (community, strain, pathway or gene) influence human health using established examples of microbiome-associated changes linked with host outcomes.

      • Hannah VanEvery
      • Eric A. Franzosa
      • Curtis Huttenhower
      Review Article
    • Inducible protein degradation technologies enable the depletion of loop extrusion factors within short time frames, leading to the rapid reconfiguration of the 3D genome. Nora and de Wit review insights from degron approaches into the molecular factors controlling genome folding and how these findings have changed our understanding of genome organization, including its role in transcription.

      • Elzo de Wit
      • Elphège P. Nora
      Review Article
    • Mendelian defects in genes encoding factors that regulate telomere length, structure and function cause telomeropathies, or telomere biology disorders (TBDs). The authors review confirmed as well as potential TBD-causing genes and their main functions in telomere biology. They also discuss genetic features that underlie the complex nature of these diseases.

      • Patrick Revy
      • Caroline Kannengiesser
      • Alison A. Bertuch
      Review Article
    • This Review discusses how chromosome tracing has deepened our understanding of the role of 3D chromatin topology in transcriptional regulation by helping to resolve open questions and opposing models rising from data generated by sequencing-based approaches, such as 3C and HiC.

      • Antonina Hafner
      • Alistair Boettiger
      Review Article
  • In this Journal Club article, María Ávila-Arcos discusses a paper on a medically relevant genetic variant that was found exclusively in Indigenous populations from the Americas. She describes how this work served as inspiration for the inclusion of more diverse populations in the 1000 Genomes Project.

    • María C. Ávila-Arcos
    Journal Club
  • A paper in Molecular Cell reports the characterization of a second functional light strand promoter (LSP2) in the mitochondrial genome, challenging the view that mitochondrial DNA replication and gene expression are coupled by their reliance on a single light strand promoter (LSP).

    • Dorothy Clyde
    Research Highlight
  • Four papers in Science use single-cell, single-nucleus and spatial transcriptomic profiling of reptilian and amphibian brain tissue to provide insights into the evolution of vertebrate forebrains.

    • Kirsty Minton
    Research Highlight
  • By studying the closest extant unicellular relatives of animals and fungi, a study in Nature contrasts the evolutionary trajectories leading to the origin of these groups.

    • Linda Koch
    Research Highlight
  • Cooper et al. report in Science the use of massively parallel reporter assays and CRISPR-based validation to characterize the function of noncoding variants in dementia.

    • Kirsty Minton
    Research Highlight
  • A new study in Cell has characterized genome-wide dosage sensitivity for 54 human disorders, providing insight into the causal genes and disease mechanisms associated with rare copy-number variants.

    • Dorothy Clyde
    Research Highlight
A Nobel Prize medal against a background of pills and an electrocardiogra

Nobel Prize in Physiology or Medicine 2022

The 2022 Nobel Prize in Physiology or Medicine was awarded to Svante Pääbo "for his discoveries concerning the genomes of extinct hominins and human evolution".
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