Disease genetics articles within Nature

Featured

  • Article
    | Open Access

    Frameshift mutations that create arginine-rich basic tails in transcription factors and other proteins can lead to altered phase separation in the nucleolus, which in turn leads to syndromes such as brachyphalangy, polydactyly and tibial aplasia.

    • Martin A. Mensah
    • , Henri Niskanen
    •  & Denes Hnisz

  • Article
    | Open Access

    An analysis of biobank data from the FinnGen project examines dosage effects of genetic variants on disease, andidentifies a benefit when considering more complex inheritance in the genetics of common as well as Mendelian diseases.

    • H. O. Heyne
    • , J. Karjalainen
    •  & M. J. Daly

  • Article
    | Open Access

    A study examining DNA transfer from mitochondria to the nucleus using whole-genome sequences from 66,083 people shows that this is an ongoing dynamic process in normal cells with distinct roles in different types of cancer.

    • Wei Wei
    • , Katherine R. Schon
    •  & Patrick F. Chinnery

  • Article |

    NOD2 deficiency drives fibrosis and stricturing complications in Crohn’s disease through dysregulated homeostasis of activated fibroblasts and macrophages, which is ameliorated by gp130 blockade in human cell and zebrafish models.

    • Shikha Nayar
    • , Joshua K. Morrison
    •  & Judy H. Cho

  • Article
    | Open Access

    A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.

    • Beryl B. Cummings
    • , Konrad J. Karczewski
    •  & Daniel G. MacArthur

  • Letter |

    Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications can cause the formation of new higher-order chromatin structures called topologically associated domains (TADs) thereby resulting in changes in gene expression.

    • Martin Franke
    • , Daniel M. Ibrahim
    •  & Stefan Mundlos

  • Outlook |

    A subterranean species that seems to be cancer-proof is providing promising clues on how we might prevent the disease in humans.

    • Sarah Deweerdt

  • Letter |

    Two private, heterozygous mutations in two functionally related genes, GUCY1A3 and CCT7, are identified in an extended family with myocardial infarction; these genes encode proteins that work together to inhibit platelet activation after nitric oxide stimulation, suggesting a link between impaired nitric oxide signalling and myocardial infarction risk.

    • Jeanette Erdmann
    • , Klaus Stark
    •  & Heribert Schunkert

  • Article |

    Nuclear genome transfer using unfertilized donor oocytes is performed and shown to be effective in preventing the transmission of mitochondrial DNA mutations; the swapped oocytes can develop to the blastocyst stage, and produce parthenogenetic embryonic stem-cell lines that show normal karyotypes and only mitochondrial DNA from the donor oocyte.

    • Daniel Paull
    • , Valentina Emmanuele
    •  & Dieter Egli

  • News & Views |

    Disorders caused by single genes, such as fragile X syndrome, share symptoms with the genetically complex autism spectrum disorders. It emerges that effective drugs for the former may lead to therapies for the latter.

    • Evdokia Anagnostou

  • Letter |

    Atpif1, a mitochondrial ATPase inhibitor, was identified as a zebrafish anemic mutant, pinotage, providing an important link in our understanding of the relationship between mitochondrial homeostasis and haem synthesis and identifying a gene that may have a role in human iron, haem and mitochondrial diseases.

    • Dhvanit I. Shah
    • , Naoko Takahashi-Makise
    •  & Barry H. Paw

  • Outlook |

    Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.

    • Sarah C. P. Williams

  • Article
    | Open Access

    This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

    • Gil A. McVean
    • , David M. Altshuler (Co-Chair)
    •  & Gil A. McVean

  • Article |

    Mutations in mitochondrial DNA cause a wide range of disorders in humans, with a high prevalence; here it is shown that the nucleus of an affected woman’s egg could be inserted into healthy donor egg cytoplasm by spindle transfer, allowing the birth of healthy offspring.

    • Masahito Tachibana
    • , Paula Amato
    •  & Shoukhrat Mitalipov

  • Outlook |

    Smoking and COPD have one of the strongest relationships in clinical epidemiology. But don't forget the genetics, says Edwin K. Silverman

    • Edwin K. Silverman

  • News & Views |

    A comprehensive analysis of human spontaneous mutation has revealed a strong influence of paternal age, suggesting a link between an increasing number of older fathers and the rise in disorders such as autism. See Article p.471

    • Alexey Kondrashov

  • News & Views |

    A mutant repeating DNA sequence produces a toxic RNA molecule that causes the neuromuscular disorder myotonic dystrophy type 1. An ‘antisense’ therapy that targets this RNA in cell nuclei shows promise in mice. See Letter p.111

    • Peter K. Todd
    •  & Henry L. Paulson

  • Letter |

    Mutations in the profilin 1 (PFN1) gene, which is crucial for the conversion of monomeric to filamentous actin, can cause familial amyotrophic lateral sclerosis, suggesting that alterations in cytoskeletal pathways contribute to disease pathogenesis.

    • Chi-Hong Wu
    • , Claudia Fallini
    •  & John E. Landers

  • News & Views |

    The expression level of a single gene can determine head size in zebrafish, mirroring a human anatomical feature associated with neurological disorders such as autism and schizophrenia. See Letter p.363

    • Dheeraj Malhotra
    •  & Jonathan Sebat

  • Outlook |

    More than 100 variations in the genome have been linked to multiple sclerosis. Researchers are now trying to find the overlap with other auto-immune conditions, and understand how environmental factors interact with genes to trigger disease.

    • Virginia Hughes

  • Outlook |

    A slew of new data suggests that it is time to rethink and reclassify autoimmune disease, says David A. Hafler.

    • David A. Hafler

  • Editorial |

    Progress on rare genetic diseases shows the medical value of outliers.

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