Genetics articles within Nature Communications

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  • Article |

    During development, Wnt-mediated Notch signalling controls the generation of somites from the presomitic mesoderm, but the precise signalling mechanism is unknown. Here, the transcription factor Mesogenin 1 is shown to be a direct target of Wnt3a and regulates the transcription of a Notch signalling program.

    • Ravindra B. Chalamalasetty
    • , William C. Dunty Jr
    •  & Terry P. Yamaguchi

  • Article |

    The torsinA protein localizes to the endoplasmic reticulum and, when mutated, causes early onset torsion dystonia. The authors reveal a new role for torsinA in proteosome-mediated degradation of misfolded proteins, and relate this to endoplasmic reticulum stress, in aCaenorhabditis elegansmodel and patient fibroblasts.

    • Flávia C. Nery
    • , Ioanna A. Armata
    •  & Xandra O. Breakefield

  • Article |

    Soluble cytosolic proteins can be degraded in lysosomes by chaperone-mediated autophagy, however, the current method to measure this process requires isolation of lysosomes. Now, a fluorescent reporter is described that can measure this type of autophagy in intact cells.

    • Hiroshi Koga
    • , Marta Martinez-Vicente
    •  & Ana Maria Cuervo

  • Article |

    Mutations in the DNA helicaseBLM cause Bloom syndrome, which is characterized by slow replication fork progression and genetic instability. Here, cells lacking BLMare shown to have a defect in cytidine deaminase, which alters the pyrimidine pool and results in replication fork progression with altered velocity.

    • Pauline Chabosseau
    • , Géraldine Buhagiar-Labarchède
    •  & Mounira Amor-Guéret

  • Article |

    Nitric oxide can be produced by nitric oxide synthase or by nitrite reduction, but whether the latter occurs inside cells is unknown. Here, the TRPV3 ion channel is shown to induce nitrite-dependent nitric oxide production in keratinocytes, where it has a role in thermosensory behaviour and wound healing.

    • Takashi Miyamoto
    • , Matt J. Petrus
    •  & Ardem Patapoutian

  • Article |

    Undulating flight, an efficient mode of locomotion in flying birds, can theoretically also result in efficient locomotion in water. Here we demonstrate gait patterns resembling undulating flight in four marine vertebrate species comprising sharks and pinnipeds.

    • Adrian C. Gleiss
    • , Salvador J. Jorgensen
    •  & Rory P. Wilson

  • Article |

    Migratory segregation presents a hypothesized barrier to gene flow among seabirds, but its mechanisms are unclear. Rayneret al. find that migratory habitat specialization, associated with breeding asynchrony and philopatry, restricts gene flow between two seabird populations migrating across the Pacific Ocean.

    • Matt J. Rayner
    • , Mark E. Hauber
    •  & Scott A. Shaffer

  • Article
    | Open Access

    Complex diseases such as multiple sclerosis have both genetic and environmental components. This study demonstrates that variants of genes implicated in multiple sclerosis, and alterations in cellular metabolism and vitamin D3 levels, alterN-glycosylation, a post-translational modification causal of the disease in mice.

    • Haik Mkhikian
    • , Ani Grigorian
    •  & Michael Demetriou

  • Article |

    PTEN is a phosphatase that regulates the phosphatidylinositol-3 kinase signalling pathway and is inactivated in many tumour types. Heet al.show that a mannosidase, α-mannosidase 2C1, can inactivate PTEN in prostate cancer cells, and that PTEN-positive human prostate tumours overexpress α-mannosidase 2C1.

    • Lizhi He
    • , Catherine Fan
    •  & Damu Tang

  • Article
    | Open Access

    In vitrostudies have suggested that the ubiquitin ligase, Nedd4-2, regulates several proteins, including the epithelial sodium channel. Here by examining Nedd4-2-deficient mice, the authors demonstrate that Nedd4-2 is essential for epithelial sodium channel regulation, fetal and postnatal lung function and animal survival.

    • Natasha A. Boase
    • , Grigori Y. Rychkov
    •  & Sharad Kumar

  • Article
    | Open Access

    Cyanide-releasing defence systems in plants and animals are important to the evolution of plant–herbivore interactions. The authors identify the enzymes responsible for biosynthesis of cyanogenic glucosides by Six-spot Burnet moth caterpillars, which have evolved independently from the known plant pathway.

    • Niels Bjerg Jensen
    • , Mika Zagrobelny
    •  & Søren Bak

  • Article
    | Open Access

    The global prevalence of the Duffy blood group variants is important due to the resistance that the Duffy-negative phenotype generally confers uponPlasmodium vivax infection. Hay et al.generate global frequency maps of the common Duffy alleles to show transmission patterns of the malaria parasite.

    • Rosalind E. Howes
    • , Anand P. Patil
    •  & Simon I. Hay

  • Article
    | Open Access

    It has been proposed that stem cells use nonrandom chromosome segregation to avoid the accumulation of replication-induced mutations. Here, the authors examine intestinal epithelial stem cell division and show, using label exclusion and retention assays, that the cells segregate their chromosomes randomly.

    • Marion Escobar
    • , Pierre Nicolas
    •  & Catherine Legraverend

  • Article |

    Pronucleus DNA becomes demethylated during zygotic development. Here, the authors demonstrate that the reduction in 5-methylcytosine levels is accompanied by an increase in the presence of 5-hydroxymethylcytosine, and suggest that this has a role in developmental reprogramming.

    • Mark Wossidlo
    • , Toshinobu Nakamura
    •  & Jörn Walter

  • Article |

    Matrilocal and patrilocal populations are predicted to have greater genetic diversity in mitochondrial DNA and the Y-chromosome, respectively. Here, no difference in the diversity of the Y-chromosome was found in two such groups, suggesting that local diversity was caused by male gene flow in expanding populations.

    • Ellen Dröfn Gunnarsdóttir
    • , Madhusudan R. Nandineni
    •  & Mark Stoneking

  • Article |

    Storm water runoff and wastewater effluent are discharged into oceans, but the full ecological effects of these discharges are unknown. Here, the authors examine the population structure of a marine organism, the bat star, and show that these discharges alter the genetic structure and larval dispersal of this species.

    • Jonathan B. Puritz
    •  & Robert J. Toonen

  • Article
    | Open Access

    Progressive sensorineural hearing loss affects many people, but the underlying genetics remain largely undefined. Here, the authors identify mutations inGIPC3in mice and two consanguineous families that lead to hearing loss and in mice cause defects in the structure of stereocilia bundles and audiogenic seizures.

    • Nikoletta Charizopoulou
    • , Andrea Lelli
    •  & Konrad Noben-Trauth

  • Article
    | Open Access

    Leptosphaeria maculans is a plant pathogen that causes stem canker of oilseed rape. Rouxel et al. sequence and describe the key features of the L. maculansgenome, including partitioning into AT-rich blocks that are enriched in effector genes and transposable elements affected by repeat-induced point mutation.

    • Thierry Rouxel
    • , Jonathan Grandaubert
    •  & Barbara J. Howlett

  • Article |

    Microvesicles containing RNA are released from tumour cells. Here, the authors show that microvesicles released from tumour cells in culture have amplified levels of thec-Myconcogene, which is also found in the cell of origin, suggesting that microvesicles could be used as biomarkers.

    • Leonora Balaj
    • , Ryan Lessard
    •  & Johan Skog

  • Article |

    Seahorses evolved from pipefish, which have a remarkably different body shape. Here, by examining seahorse feeding behaviour and using a mathematical model, Van Wassenberghet al. demonstrate that the head, neck and trunk posture of the seahorse allows for the effective capture of their prey.

    • Sam Van Wassenbergh
    • , Gert Roos
    •  & Lara Ferry

  • Article |

    Some organisms produce unequal numbers of male and female progeny, but the mechanics of skewed of sex ratios are largely unknown. Here, the authors describe alterations in X-chromosome segregation and cytoplasmic partitioning during spermatogenesis that together explain the distorted sex ratio in a nematode species.

    • Diane C. Shakes
    • , Bryan J. Neva
    •  & Andre Pires-daSilva

  • Article |

    Insertion sequences are transposable elements that are found in the genomes of many bacteria. Here, the authors identify an enhancer element that results in a high frequency of excision of insertion elements, and suggest that the excision enhancer element coevolved with the insertion sequences.

    • Masahiro Kusumoto
    • , Tadasuke Ooka
    •  & Tetsuya Hayashi

  • Article
    | Open Access

    Identifying the transcripts and proteins that fluctuate in response to stimuli provides important information for understanding cell physiology. In this study, 52% of theBacillus subtilispredicted proteome is identified following glucose starvation, revealing further insight into protein dynamics at a global scale.

    • Andreas Otto
    • , Jörg Bernhardt
    •  & Dörte Becher

  • Article
    | Open Access

    Much effort has been devoted to the generation of rice plants with short stature to improve grain yield and increased resistance to lodging. Through quantitative trait analysis, these authors identify a gene—STRONG CULM2—that confers increased grain yield, culm strength and spikelet number in rice.

    • Taiichiro Ookawa
    • , Tokunori Hobo
    •  & Makoto Matsuoka

  • Article
    | Open Access

    Thioredoxin binding protein-2 (TBP-2) mutant mice have abnormal insulin sensitivity and secretion. In this study, TBP-2-null obese mice are shown to have improved insulin sensitivity and glucose intolerance, suggesting a potential role for TBP-2 inhibition in diabetes treatment.

    • Eiji Yoshihara
    • , Shimpei Fujimoto
    •  & Hiroshi Masutani

  • Article
    | Open Access

    Mutation of theTectbgene reduces auditory sensitivity but increases frequency selectivity. Here the authors show that Tectb mutation reduces both the spatial and temporal propagation of travelling waves along the tectorial membrane, explaining the unexpected auditory abnormalities in this mutant.

    • Roozbeh Ghaffari
    • , Alexander J. Aranyosi
    •  & Dennis M. Freeman

  • Article |

    Little is known about the regulation of mitofusin proteins that are involved in the fusion of mitochondrial membranes. In this study, the authors report that a heterotrimeric G protein, Gβ-subunit 2, can interact with mitofusin 1, and is involved in the regulation of mitochondrial fusion.

    • Juan Zhang
    • , Weihua Liu
    •  & Quan Chen

  • Article |

    The kinase Dyrk1A is essential for brain function and development, and its excessive activity has been implicated in Down syndrome. In this study, a selective inhibitor of Dyrk1A is developed, which may help to elucidate the molecular mechanisms of normal and diseased brain.

    • Yasushi Ogawa
    • , Yosuke Nonaka
    •  & Masatoshi Hagiwara

  • Article
    | Open Access

    A comparison of related genomes provides valuable information about how they evolve. Here, the complete sequence of the smallest known nuclear genome from the microsporidiaE. intestinalis is described and compared with its larger sister E. cuniculi, revealing what parts are indispensable in even the most reduced genomes.

    • Nicolas Corradi
    • , Jean-François Pombert
    •  & Patrick J. Keeling

  • Article |

    The spatial distribution and parameters that affect soil microorganism communities are largely unknown. In this study, bacterial communities up to 240 metres apart are shown to be similar and are affected by soil pH, plant abundance and snow depth.

    • Andrew J. King
    • , Kristen R. Freeman
    •  & Steven K. Schmidt

  • Article
    | Open Access

    The Hand1 transcription factor plays a central role in cardiovascular development. Here the authors demonstrate that Hand1 regulates thymosin β4 and that the delivery of synthetic thymosin β4 can rescue some of the vascular defects in Hand1 null mouse embryos.

    • Nicola Smart
    • , Karina N. Dubé
    •  & Paul R. Riley

  • Article
    | Open Access

    It was previously thought that the nerves in the pectoral fin of fish came solely from the spinal cord. Here, motoneurons in ray-finned fish are shown to also originate from the hindbrain, demonstrating that innervation was from both the hindbrain and the spinal cord in ancesteral vertebrates.

    • Leung-Hang Ma
    • , Edwin Gilland
    •  & Robert Baker

  • Article
    | Open Access

    The faithful positioning and growth of cells during embryonic development is essential. In this study Seifertet al. demonstrate that inactivation of Sonic Hedgehogduring development of the genital tubercle results in a prolonged G1 phase and a slower rate of growth.

    • Ashley W. Seifert
    • , Zhengui Zheng
    •  & Martin J. Cohn

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