Extreme heterogeneity of human mitochondrial DNA from organelles to populations

  • James B. Stewart
  • Patrick F. Chinnery
Review Article

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    • Maintenance of cell-type identity requires the faithful inheritance of chromatin states through cell division, despite the challenges posed by the disruptive passage of the DNA replication fork and the dilution of nucleosome components in complex with the daughter DNA strands. In this Review, Escobar, Loyola and Reinberg discuss how methodological advances are providing unprecedented mechanistic insights into the segregation of parental nucleosomes, how these mechanisms maintain gene expression programmes and how non-faithful nucleosome segregation is linked to differentiation and disease.

      • Thelma M. Escobar
      • Alejandra Loyola
      • Danny Reinberg
      Review Article
    • MicroRNAs (miRNA) exert essential functions in mammalian development and physiology. The authors review recent insights from the phenotypic analysis of miRNA knockouts in mice that emphasize roles for these non-coding RNAs at different developmental stages and in adults, and illustrate the importance of functional miRNA targets, miRNA dosage, miRNA interactions and cellular context.

      • Brian DeVeale
      • Jennifer Swindlehurst-Chan
      • Robert Blelloch
      Review Article
    • Shadow enhancers regulate a common target gene and drive expression patterns that overlap spatiotemporally. The authors review recent insights into the prevalence and role of shadow enhancers in metazoans, as well as their mechanisms of action to fine-tune gene expression. They also discuss the evolution of shadow enhancers and their implication in disease.

      • Evgeny Z. Kvon
      • Rachel Waymack
      • Zeba Wunderlich
      Review Article
    • Africa is a continent with deep evolutionary history, which has implications for the genetic underpinnings of disease. In this Review, the authors discuss how genetic features of African populations provide both challenges and opportunities for understanding disease genetics in Africa. They describe how this genetic knowledge — combined with initiatives including capacity-building, data sharing and increased representation of African genomes in genetic variation databases — can be leveraged towards achieving precision medicine approaches in African healthcare.

      • Luisa Pereira
      • Leon Mutesa
      • Michèle Ramsay
      Review Article
    • Our evolutionary history has resulted in highly complex and sophisticated human physiology. Yet evolutionary footprints have also left us prone to diseases. In this Review, the authors discuss how events from the earliest history of life on Earth through to modern human evolution influence many disease traits and outcomes. They describe how an understanding and application of evolutionary frameworks can inform precision medicine initiatives.

      • Mary Lauren Benton
      • Abin Abraham
      • John A. Capra
      Review Article
  • A report in Science describes in situ genome sequencing (IGS), a method that enables genomes to be simultaneously sequenced and imaged in intact samples, including early mouse embryos. IGS will facilitate insight into the relationship between genome sequence and organization.

    • Dorothy Clyde
    Research Highlight
  • A study in Nature Genetics applies whole-genome sequencing to monozygotic twins, their parents, partners and offspring to identify and characterize early developmental mutations, as well as the fate of mutated cells.

    • Linda Koch
    Research Highlight
  • A study in Nature reports that adenine base editors can correct the mutation that causes Hutchinson–Gilford progeria syndrome in a mouse model of this disease, extending lifespan.

    • Katharine H. Wrighton
    Research Highlight
  • Two new papers in Nature Biotechnology report methods for targeted sequencing of complex DNA samples, achieved in real time during nanopore sequencing runs.

    • Darren J. Burgess
    Research Highlight
  • An article in Cell describes a multi-omic analysis of health risks from spaceflights that implicates mitochondrial stress and dysregulation as key drivers.

    • Dorothy Clyde
    In Brief
  • A study in Genome Biology uses EpiGo-KRAB to analyse the roles of H3K9me3 in genome organization and transcriptional repression and reveals the two functions may be distinct.

    • Dorothy Clyde
    In Brief
20th Anniversary

20th Anniversary

October 2020 marks the 20th anniversary of the launch of Nature Reviews Genetics. To celebrate this milestone, we have delved into our archives to curate a Collection of cutting-edge articles, historical pieces and thought-provoking commentaries and opinions. Featuring a range of article types, including Reviews, Perspectives, Viewpoints and Comments, this Collection provides a glimpse of the genetics and genomics field over the past two decades.
Collection

Nature Careers