Mutation articles within Nature

Featured

  • News Feature |

    Experiments have revealed how single mutations can have huge effects that drive evolution. But small steps pave the way, finds Tanguy Chouard.

    • Tanguy Chouard

  • News & Views |

    Defects in mitochondria are implicated in Parkinson's disease. Study of a quality-control pathway involving the proteins PINK1 and Parkin provides further clues about the mechanism involved.

    • Asa Abeliovich

  • Letter |

    Recently, numerous single nucleotide polymorphisms have been identified as being associated with obesity, but these loci together account for only a small fraction of the known heritable component. Here, an association is reported between rare deletions of at least 593 kilobases at 16p11.2 and a highly penetrant form of obesity. The strategy used of combining study of extreme phenotypes with targeted follow-up is promising for identifying missing heritability in obesity.

    • R. G. Walters
    • , S. Jacquemont
    •  & J. S. Beckmann

  • News & Views |

    A survey of mammalian genomes has unexpectedly unearthed DNA derived from bornaviruses, leading to speculation about the role of these viruses in causing mutations with evolutionary and medical consequences.

    • Cédric Feschotte

  • Letter |

    Clear cell renal carcinoma, the most common form of adult kidney cancer, is often characterized by the presence of inactivating mutations in the VHL gene. A large survey for somatic mutations now identifies inactivating mutations in two genes encoding enzymes involved in histone modification, highlighting the role of mutations in components of the chromatin modification machinery in human cancer.

    • Gillian L. Dalgliesh
    • , Kyle Furge
    •  & P. Andrew Futreal

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