Genetics articles within Nature

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  • 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

  • News Feature |

    Eske Willerslev combines Arctic escapades with meticulous lab work in his quest to pull ancient DNA from the ice. Rex Dalton talks to the adventurer about extracting the first ancient human genome.

    • Rex Dalton

  • 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

  • Editorial |

    The complexity of genetic regulation is one of the great wonders of nature, but it represents a daunting challenge to unravel. The International Human Epigenome Consortium is an appropriate response.

  • Letter |

    Heterozygous mutations in the gene encoding CHD7, an ATP-dependent chromatin-remodelling protein, result in CHARGE syndrome — a disorder characterized by malformations of the craniofacial structures, peripheral nervous system, ears, eyes and heart. In humans and Xenopus, CHD7 is now shown to be essential for the formation of multipotent migratory neural crest and for activating the transcriptional circuitry of the neural crest; shedding light on the pathoembryology of CHARGE syndrome.

    • Ruchi Bajpai
    • , Denise A. Chen
    •  & Joanna Wysocka

  • Article |

    The integrase protein of retroviruses such as HIV-1 catalyses insertion of the viral genome into that of the host. Here, the long-awaited structure of the full-length integrase complex is predicted, revealing not only details of the biochemistry of the integration reaction, but also the means by which current inhibitors affect this process.

    • Stephen Hare
    • , Saumya Shree Gupta
    •  & Peter Cherepanov

  • Letter |

    Although cyclin D1 is frequently overexpressed in human cancers, the full range of its functions in normal development and oncogenesis is unclear. Here, tagged cyclin D1 knock-in mouse strains are developed to allow a search for cyclin D1-binding proteins in different mouse organs using high-throughput mass spectrometry. The results show that, in addition to its established cell cycle roles, cyclin D1 has an in vivo transcriptional function in mouse development.

    • Frédéric Bienvenu
    • , Siwanon Jirawatnotai
    •  & Piotr Sicinski

  • Letter |

    If robustness is the opposite of evolvability, we might expect that a robust population would have difficulty adapting to environmental change; however, some studies have suggested that genetic robustness facilitates adaptation. Here, using a general population genetics model, mutational robustness is found to either impede or facilitate adaptation depending on the population size, the mutation rate and the structure of the fitness landscape.

    • Jeremy A. Draghi
    • , Todd L. Parsons
    •  & Joshua B. Plotkin

  • Letter |

    Antimicrobial peptides (AMPs) are an important class of immune effector molecules which fight pathogen infections. AMP induction in Drosophila is regulated through the activation of the Toll and immune deficiency pathways; it is now shown that AMP activation can be achieved independently of these pathways by the transcription factor FOXO. In non-infected animals, AMP genes are activated in response to nuclear FOXO activity when induced by starvation.

    • Thomas Becker
    • , Gerrit Loch
    •  & Michael Hoch

  • News & Views |

    The giant-panda genome is the first reported de novo assembly of a large mammalian genome achieved using next-generation sequencing methods. The feat reflects a trend towards ever-decreasing genome-sequencing costs.

    • Kim C. Worley
    •  & Richard A. Gibbs

  • Books & Arts |

    The director of the US National Institutes of Health, Francis Collins, calls for a revolution in personalized medicine. Such advances should be shared beyond the developed world, says Abdallah S. Daar.

    • Abdallah S. Daar

  • News & Views |

    Biologists have assumed that natural selection shapes larger patterns of evolution through interactions such as competition and predation. These patterns may instead be determined by rare, stochastic speciation.

    • Michael J. Benton

  • Letter |

    Sperm can increase their swimming velocity and gain a competitive advantage over sperm from another male by forming cooperative groups, such that selection should favour cooperation of the most closely related sperm. Sperm of deer mice are now shown to aggregate more often with conspecific than heterospecific sperm, in accordance with this theory, whereas in a monogamous species lacking sperm competition, sperm indiscriminately group with unrelated conspecific sperm.

    • Heidi S. Fisher
    •  & Hopi E. Hoekstra

  • Letter |

    Much of the mammalian genome is derived from retroelements, a significant proportion of which are endogenous retroviruses (ERVs). ERVs are transcriptionally silenced during early embryogenesis by histone and DNA methylation, but the initiators of this process are largely unknown. Here, deletion of KAP1 is shown to lead to a marked upregulation of a range of ERVs in mouse embryonic stem cells and in early embryos.

    • Helen M. Rowe
    • , Johan Jakobsson
    •  & Didier Trono

  • Article
    | Open Access

    Soybean is an important crop plant, providing seed protein and oil and fixing atmospheric nitrogen through symbioses with soil-borne microorganisms. Using a whole-genome shotgun approach, its 1.1-gigabase genome is now sequenced and integrated with physical and high-density genetic maps to create a chromosome-scale draft sequence assembly.

    • Jeremy Schmutz
    • , Steven B. Cannon
    •  & Scott A. Jackson

  • Letter |

    Immune homeostasis relies on tight control over the size of a population of regulatory T cells (Treg) that can suppress over-exuberant immune responses. Cells commit to the Treg lineage by upregulating the transcription factor Foxp3. Conserved non-coding DNA sequence elements at the Foxp3 locus are now shown to control the composition, size and maintenance of the Treg cell population.

    • Ye Zheng
    • , Steven Josefowicz
    •  & Alexander Y. Rudensky

  • Letter |

    Phenotypic robustness in the face of genetic and environmental perturbations — known as canalization — relies on buffering mechanisms. Hsp90 chaperone machinery has been proposed to be an evolutionarily conserved buffering mechanism of phenotypic variance. Here, an additional, perhaps alternative, mechanism whereby Hsp90 influences phenotypic variation is proposed; Hsp90 mutations can generate new variation by transposon-mediated mutagenesis.

    • Valeria Specchia
    • , Lucia Piacentini
    •  & Maria P. Bozzetti

  • Letter |

    Until now, retroviruses have been the only group of viruses known to have left a fossil record, in the form of endogenous proviruses; those elements make up approximately 8% of the human genome. Elements homologous to the nucleoprotein gene of the non-retroviral bornavirus are now shown to exist in the genomes of several mammalian species; the results give insights into the role of bornavirus as a source of genetic novelty to its host.

    • Masayuki Horie
    • , Tomoyuki Honda
    •  & Keizo Tomonaga

  • 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

  • News & Views |

    The tracks left by organisms are among the most difficult of fossils to interpret. But just such evidence puts debate about the origins of four-limbed vertebrates (which include ourselves) on a changed footing.

    • Philippe Janvier
    •  & Gaël Clément

  • Letter |

    After fertilization in mammals, the maternal and paternal genomes undergo epigenetic reprogramming to prepare for the transition from germ cell to somatic cell transcription programs. One of the events that takes place is the demethylation of the paternal genome. To identify the factors involved in this process, a live cell imaging system is now used to monitor the paternal DNA methylation state in zygotes; Elp3, a component of the elongator complex, is found to have an important role.

    • Yuki Okada
    • , Kazuo Yamagata
    •  & Yi Zhang

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