Genetics articles within Nature Communications

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  • Article |

    An understanding of the genetic network that controls the flower-bearing structure—the inflorescence—in plants helps to explain the diversity seen in plant forms. This work identifies a new mechanism for the generation of inflorescence complexity in legumes, which is based on the function of theVEG1gene.

    • Ana Berbel
    • , Cristina Ferrándiz
    •  & Francisco Madueño
  • Article
    | Open Access

    Hyperuricemia, or gout, is thought to arise either from urate overproduction or from decreased renal excretion of urate. Ichidaet al. show that the extra-renal excretion of urate also has a role in the pathogenesis of hyperuricemia, and propose a new classification for patients with this disease.

    • Kimiyoshi Ichida
    • , Hirotaka Matsuo
    •  & Hiroshi Suzuki
  • Article |

    Humans understand actions by making inferences about the person's intentions. Comparing humans with chimpanzees, this study shows that humans refer to the actors' faces more than chimpanzees do when observing goal-directed actions, indicating that humans view actions by integrating information from the actor.

    • Masako Myowa-Yamakoshi
    • , Céline Scola
    •  & Satoshi Hirata
  • Article
    | Open Access

    Molecular factors, regulating the expression of specific glycolytic enzymes that favour biosynthetic processes, have remained unknown. Panasyuket al. identify PPARγ as a novel transcription factor turning on pyruvate kinase M2 and hexokinase 2, which are frequently upregulated in pathophysiological growth.

    • Ganna Panasyuk
    • , Catherine Espeillac
    •  & Mario Pende
  • Article
    | Open Access

    Detailed analysis of axis development in mouse embryo has been limited. Morriset al. developed an in vitroculture technique that enables the real-time observation of an anterior visceral endoderm formation and show that cell marker asymmetry within the AVE subdomain dictates the direction of the AVE migration.

    • Samantha A. Morris
    • , Seema Grewal
    •  & Magdalena Zernicka-Goetz
  • Article |

    Hereditary haemorrhagic telangiectasia (HTT) is caused by mutations in TGFβ/bone morphogenetic protein signalling genes. Here, Benzinouet al. show that variants of PTPN14, a gene within a mouse Tgfb1 modifier locus, associate with pulmonary arteriovenous malformation in HTT patients, shedding light on the molecular aetiology of this disease.

    • Michael Benzinou
    • , Frederic F. Clermont
    •  & Rosemary J. Akhurst
  • Article
    | Open Access

    Populations of the same species living in different habitats can differ in sensory traits driving speciation, but it is not known if this variation limits gene flow. Here, a genetic and acoustic study of the bumblebee bat suggests that geographic distance, instead of echolocation divergence, limits gene flow.

    • Sébastien J. Puechmaille
    • , Meriadeg Ar Gouilh
    •  & Emma C. Teeling
  • Article |

    The microRNA miR-137 is enriched in the brain of mice and induces the differentiation of adult neural stem cells. Now, Sun and colleagues report that miR-137 negatively regulates proliferation of neurons in embryonic mice and that TLX and LSD1 cooperate to negatively regulate miR-137 expression, blocking premature differentiation.

    • GuoQiang Sun
    • , Peng Ye
    •  & Yanhong Shi
  • Article |

    APOBEC3 is a DNA editing enzyme that is important for antiviral responses. In this study, Carmi and colleagues show that APOBEC3 editing of retrotransposon sequences in mammalian genomes is widespread, with implications for the evolution of retrotransposons.

    • Shai Carmi
    • , George M. Church
    •  & Erez Y. Levanon
  • Article
    | Open Access

    MicroRNAs bind to the 3′-untranslated region of genes to regulate expression. In this study, an RNA-binding protein, RMB38, is shown to selectively regulate the access of some microRNAs to their targets, and control the expression of some p53 target genes.

    • Nicolas Léveillé
    • , Ran Elkon
    •  & Reuven Agami
  • Article
    | Open Access

    Understanding the genetics and physiology of domesticated species is important for crop improvement. By studying natural variation and the phenotypic traits of 413 diverse accessions of rice, Zhao et al. identify many common genetic variants that influence quantitative traits such as seed size and flowering time.

    • Keyan Zhao
    • , Chih-Wei Tung
    •  & Susan R. McCouch
  • Article
    | Open Access

    The appearance of a new intron that splits an exon without disrupting the corresponding peptide sequence is a rare event in vertebrate genomes. Hellstenet al.demonstrate that, under certain circumstances, a functional intron can be produced in a single step by segmental genomic duplication.

    • Uffe Hellsten
    • , Julie L. Aspden
    •  & Daniel S. Rokhsar
  • Article
    | Open Access

    Many mammals are born with an immature intestinal epithelium, which adapts to a changing diet during the weaning period. Muncanet al. show that the transcriptional repressor Blimp1is expressed in the intestine of mice at birth, and that expression is lost at the transition to the weaning stage.

    • Vanesa Muncan
    • , Jarom Heijmans
    •  & Gijs R. van den Brink
  • Article |

    Modern female horses are genetically diverse but male horses are relatively homogenous. Lippoldet al. sequence the Y chromosome of nine ancient horses and detect diversity in the ancestral paternal lineage, demonstrating ancient Y-chromosomal DNA sequencing can provide insights into evolution.

    • Sebastian Lippold
    • , Michael Knapp
    •  & Michael Hofreiter
  • Article
    | Open Access

    Zebra finches are passerine birds, but their phylogenetic relationship with non-passerine birds remains controversial. By examining retroposon insertion loci in avian genomes, the authors reveal that parrots are the closest relatives of passerines, which may have implications for understanding the evolution of birdsong.

    • Alexander Suh
    • , Martin Paus
    •  & Jürgen Schmitz
  • Article |

    How retinoganglion cell axons project correctly to the superior colliculus is poorly understood. Here, projections are shown to require EphB1, EphB2 and ephrin-B1 to terminate in the medial superior colliculus, while ephrin-B2 is essential for the mapping of both dorsal and ventral axons.

    • Sonal Thakar
    • , George Chenaux
    •  & Mark Henkemeyer
  • Article |

    Bird wings resemble the digits on the hands of dinosaurs, but which digit positions gave rise to those seen in modern birds is still unclear. In this work, long-term fate maps of the chick wing polarizing region are presented, supporting fossil data that birds descended from theropods that had digits 1, 2 and 3.

    • Matthew Towers
    • , Jason Signolet
    •  & Cheryll Tickle
  • Article
    | Open Access

    The chronic disease schistosomiasis is caused by the blood flukeSchistosoma mansoni. By studying DNA modifications throughout the lifecycle of the pathogen, the authors identify DNA methylation as a factor in egg development and suggest that the epigenetic machinery responsible may be a therapeutic target.

    • Kathrin K. Geyer
    • , Carlos M. Rodríguez López
    •  & Karl F. Hoffmann
  • Article |

    Male túngara frogs produce overlapping mating calls, which poses a challenge for the female frog to group and assign multiple auditory signals to the correct source. Farris and Ryan shows that, like humans, the female frogs compare and group signals using the smallest relative difference in call parameters.

    • Hamilton E. Farris
    •  & Michael J. Ryan
  • Article
    | Open Access

    Chk2 is a kinase that is a potential chemotherapeutic target. Here, Chk2 and the kinase ERK are shown to functionally interact, and are elevated in expression in human diffuse B-cell lymphomas. Combinatorial inhibition of the kinases was also shown to block tumour growth in anin vivomouse model.

    • Bojie Dai
    • , X. Frank Zhao
    •  & Ronald B. Gartenhaus
  • 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