Chromosome abnormality articles within Nature

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  • Article |

    Population-specific patterns of genomic mutations and selection of haematopoietic clones in Japanese and European participants predict the divergent rates of chronic lymphocytic leukaemia and T cell leukaemia in these populations.

    • Chikashi Terao
    • , Akari Suzuki
    •  & Yoichiro Kamatani

  • Article
    | Open Access

    A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.

    • Ryan L. Collins
    • , Harrison Brand
    •  & Michael E. Talkowski

  • Article
    | Open Access

    The Cancer Genome Atlas consortium reports on their genome-wide characterization of somatic alterations in colorectal cancer; in addition to revealing a remarkably consistent pattern of genomic alteration, with 24 genes being significantly mutated, the study identifies new targets for therapeutic intervention and suggests an important role for MYC-directed transcriptional activation and repression.

    • Donna M. Muzny
    • , Matthew N. Bainbridge
    •  & Elizabeth Thomson.

  • Article |

    A genome-wide analysis determines the contribution of DNA breaks and nuclear interactions to the formation of random versus recurrent translocations; whereas random translocations follow nuclear interaction profiles, the frequency of recurrent translocations is directly proportional to the amount of DNA damage at translocation partners.

    • Ofir Hakim
    • , Wolfgang Resch
    •  & Rafael Casellas

  • Letter |

    Exchange of sister chromatids to form four-stranded Holliday junctions occurs naturally during meiosis, to hold sister chromatids together, and during various repair events. In eukaryotes, double Holliday junctions that escape dissolution by a helicase/topoisomerase (BTR) complex are instead processed by one of several nucleases known as resolvases. This study defines the activities of the GEN1, MUS81-EME1 and SLX1-SLX4 resolvases in the absence of BLM, the helicase component of BTR that is mutated in Bloom's syndrome.

    • Thomas Wechsler
    • , Scott Newman
    •  & Stephen C. West

  • News & Views |

    Induced pluripotent stem cells have great therapeutic potential. But genomic and epigenomic analyses of these cells generated using current technology reveal abnormalities that may affect their safe use. See Articles p.58, p.63 & p.68

    • Martin F. Pera

  • Article |

    Here it is shown that telomere dysfunction drives metabolic and mitochondrial compromise. Mice with dysfunctional telomeres activate p53, which in turn represses PGC-1α and PGC-1β, master regulators of metabolic and mitochondrial processes. This results in reduced mitochondrial mass, mitochondrial dysfunction and reduced ATP generation, impaired gluconeogenesis, cariomyopathy and increased reactive oxygen species. This telomere–p53–PGC pathway shows how telomere dysfunction may compromise organ function and contribute to age-related disorders.

    • Ergün Sahin
    • , Simona Colla
    •  & Ronald A. DePinho

  • News & Views |

    One might think that aneuploidy — having an abnormal number of chromosomes — would be harmful, and would reduce an organism's fitness. Not necessarily: it all depends on the type of aneuploidy and the associated conditions. See Letter p.321

    • Judith Berman

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