Genetics

  • Article |

    It is unclear whether the mechanisms giving rise to aggression in animals are conserved across the animal kingdom. Here, the authors show that knockdown of tailless, an orthologue of a mouse gene involved in aggression, leads to increased aggression in Drosophila, suggesting that the molecular mechanisms behind aggression are conserved.

    • Shaun M. Davis
    • , Amanda L. Thomas
    •  & Herman A. Dierick
  • Article
    | Open Access

    Genetically identical twins provide a valuable resource to identify epigenetic factors associated with complex traits. Here the authors adopt this approach and find that differential methylation of the pain gene TRPA1is associated with pain sensitivity in humans.

    • J.T. Bell
    • , A.K. Loomis
    •  & T.D. Spector
  • Article |

    Many studies provide evidence of genes that are associated with cancer prognosis but a global view of these genes is lacking. Using data from ‘The Cancer Genome Atlas’, Yang et al.investigate the network properties of prognostic genes and show that these genes tend to be within highly interconnected groups but not the most connected nodes in the gene co-expression network.

    • Yang Yang
    • , Leng Han
    •  & Han Liang
  • Article |

    Ovarian cancer is one of the most common cancers in women and has an average 5-year survival of only 43%. Here, Kanchi et al.describe the germline and somatic mutation spectrum in ovarian cancer patients and identify potential risk variants associated with the disease.

    • Krishna L. Kanchi
    • , Kimberly J. Johnson
    •  & Li Ding
  • Article |

    Spitzoid neoplasms constitute a spectrum of melanocytic tumours, characterized by distinct clinical, pathological and genetic features. Here, Wiesner et al. show that kinase fusions represent the majority of oncogenic aberrations in spitzoid neoplasms and may serve as therapeutic targets for metastatic spitzoid melanoma.

    • Thomas Wiesner
    • , Jie He
    •  & Boris C. Bastian
  • Article
    | Open Access

    Multiple myeloma is a malignant plasma cell disorder with a complex molecular pathogenesis. Here, the authors perform whole-exome sequencing, copy-number profiling and cytogenetic analysis in 84 myeloma samples and highlight the diversity and evolution of the mutational profile underlying the disease.

    • Niccolo Bolli
    • , Hervé Avet-Loiseau
    •  & Nikhil C. Munshi
  • Article
    | Open Access

    Locusts are destructive agricultural pests and serve as a model organism for studies of insects. Here, the authors report a draft genome sequence of the migratory locust, Locusta migratoria, and provide insight into genes associated with key survival traits such as phase-change, long-distance migration and feeding.

    • Xianhui Wang
    • , Xiaodong Fang
    •  & Le Kang
  • Article
    | Open Access

    Horizontal gene transfers are known to play an important role in prokaryote evolution but their impact and prevalence in eukaryotes is less clear. Here, the authors sequence the genomes of cheese making fungi P. roqueforti and P. camemberti, and provide evidence for recent horizontal transfers of a large genomic region.

    • Kevin Cheeseman
    • , Jeanne Ropars
    •  & Yves Brygoo
  • Article |

    Severe acne is a common skin disease characterized by chronic inflammation and potential scarring. Here, the authors have identified genetic variants at two loci associated with severe acne and provide insight into the genetic architecture and biological pathways underlying the disease.

    • Li He
    • , Wen-Juan Wu
    •  & Ya-Ping Zhang
  • Article |

    Determining the link between gene polymorphisms and phenotypic traits is the subject of intense research in agricultural plant science. In this study, Fu et al. conduct RNA sequencing in maize kernels to determine gene polymorphisms, which may aid future research aiming to improve the nutritional value of maize.

    • Junjie Fu
    • , Yanbing Cheng
    •  & Guoying Wang
  • Article |

    Insulinomas develop from pancreatic β-cells and secrete insulin, but the underlying genetic defects are largely unknown. In this study, Cao et al. identify recurrent T372R mutations in the transcription factor YY1, and validate this hotspot mutation in 30% of insulinomas.

    • Yanan Cao
    • , Zhibo Gao
    •  & Guang Ning
  • Article
    | Open Access

    Mitochondrial ribosomes are uniquely affected by mutations in the mitochondrial genome. By mapping the position of ribosomes on transcripts, the authors here reveal functional differences between mitochondrial and cytosolic ribosomes, and show that mutations in mitochondrial tRNAs induce ribosome stalling.

    • Koos Rooijers
    • , Fabricio Loayza-Puch
    •  & Reuven Agami
  • Article |

    Mutations in the GABA A receptor have been implicated in alcohol dependence in humans. In this study, the authors show that mice with mutations in the beta 1 subunit of the GABA A receptor exhibit spontaneous GABA A channel opening and preferentially consume alcohol, working harder to access it.

    • Quentin M. Anstee
    • , Susanne Knapp
    •  & Howard C. Thomas
  • Article
    | Open Access

    Men and women differ in terms of their neurochemistry, behaviour and susceptibility to disease. Here the authors show that sex differences in gene expression and splicing are widespread in adult human brain, and that sex-biased expression is likely to have functional consequences.

    • Daniah Trabzuni
    • , Adaikalavan Ramasamy
    •  & Mina Ryten
  • Article |

    Little is known about the genes that confer salt tolerance in trees. Here, Ma et al. report the genome sequence of the desert poplar, Populus euphratica, and provide insight into the genetic architecture and adaptation of this salt tolerant desert poplar.

    • Tao Ma
    • , Junyi Wang
    •  & Jianquan Liu
  • Article
    | Open Access

    Schizophrenia and bipolar disorder are important psychiatric disorders with overlapping genetic components. Here, the authors identify and replicate a genome-wide significant risk locus for the two disorders, and suggest a role for NDST3in severe psychiatric disease.

    • Todd Lencz
    • , Saurav Guha
    •  & Ariel Darvasi
  • Article |

    Renal cell carcinoma (RCC) accounts for 80–90% of all kidney cancers, but to date, only five genome-wide significant RCC risk loci have been identified. Here, Gudmundsson et al.identify a new RCC susceptibility locus and provide insight into the genetic basis of the disease.

    • Julius Gudmundsson
    • , Patrick Sulem
    •  & Kari Stefansson
  • Article |

    The Hoppel transposable element mediates heterochromatin formation in Drosophila. Here Savva et al. report that the RNA-editing enzyme, ADAR, edits a long double-stranded RNA generated by the Hoppeltransposon, thereby regulating heterochromatin formation and gene expression.

    • Yiannis A. Savva
    • , James E. C. Jepson
    •  & Robert A. Reenan
  • Article |

    The miR-372-3 cluster has a role in oncogenesis. In this study, by utilizing parthenogenetic induced pluripotent stem cells, that lack the paternal genome, Stelzer et al.report that these miR-372-3 are negatively regulated by a paternally imprinted antisense transcript and that loss of its expression promotes oncogenesis.

    • Yonatan Stelzer
    • , Ido Sagi
    •  & Nissim Benvenisty
  • Article
    | Open Access

    PALB2 is a BRCA1-/BRCA2-interacting protein and heterozygous mutations in PALB2 are associated with hereditary breast cancer predisposition. Here the authors show that human lymphoblastoid cells from heterozygous PALB2mutation carriers display abnormal DNA replication dynamics and DNA damage response.

    • Jenni Nikkilä
    • , Ann Christin Parplys
    •  & Robert Winqvist
  • Article |

    Loss of the tumour suppressor Rb1 alone is thought to be insufficient for tumorigenesis. In this study, Liu et al. demonstrate that cells in which all three Rb1 family members are inactivated can initiate tumour formation, but only if cell survival is ensured by the retention of cell–cell contacts.

    • Yongqing Liu
    • , Ester Sánchez-Tilló
    •  & Douglas C. Dean
  • Article |

    Hodgkin’s lymphoma has a genetic component that is poorly understood. In this study, Frampton et al. perform a genome-wide association study in German patients and combine the results with a previously published UK genome-wide association study to identify susceptibility loci at 3p24.1 and 6q23.3.

    • Matthew Frampton
    • , Miguel Inacio da Silva Filho
    •  & Richard S. Houlston
  • Article
    | Open Access

    The kiwifruit is an economically and nutritionally important fruit crop with high vitamin C content. Here, the authors report the draft genome sequence of a heterozygous kiwifruit and through comparative genomic analysis provide valuable insight into kiwifruit evolution.

    • Shengxiong Huang
    • , Jian Ding
    •  & Yongsheng Liu
  • Article
    | Open Access

    Scorpions have maintained the primary anatomical features of their Paleozoic arthropod ancestors. Here, the authors report the genome sequence of Mesobuthus martensiiand highlight evidence of genetic and morphological evolution that represents a unique adaptation model of arthropods.

    • Zhijian Cao
    • , Yao Yu
    •  & Wenxin Li
  • Article
    | Open Access

    Tumour biopsies contain contaminating normal cells and these can influence the analysis of tumour samples. In this study, Yoshihara et al.develop an algorithm based on gene expression profiles from The Cancer Genome Atlas to estimate the number of contaminating normal cells in tumour samples.

    • Kosuke Yoshihara
    • , Maria Shahmoradgoli
    •  & Roel G.W. Verhaak
  • Article
    | Open Access

    Ashkenazi mitochondrial DNA variation has four major founders whose sources are difficult to trace due to the rarity of Ashkenazi Jews in the general population. Here, the authors provide evidence that all four major founders originated from Europe and provide a genealogical record of the Ashkenazi.

    • Marta D. Costa
    • , Joana B. Pereira
    •  & Martin B. Richards
  • Article
    | Open Access

    Viruses contribute to the pathogenesis of certain cancers. Using massively parallel sequencing data from The Cancer Genome Atlas to analyse viral expression in 19 tumour types, Tang et al. both confirm and reject previously described viral associations and present new information on viral integration and host interaction.

    • Ka-Wei Tang
    • , Babak Alaei-Mahabadi
    •  & Erik Larsson
  • Article |

    MicroRNAs are thought to confer robustness to biological processes, but clear experimental evidence is still needed. Here, Siciliano et al. construct a toggle-switch in mammalian cells to show that microRNAs buffer fluctuations in protein levels, thereby providing phenotypic robustness to gene regulatory networks.

    • Velia Siciliano
    • , Immacolata Garzilli
    •  & Diego di Bernardo
  • Article |

    Topoisomerase 2α (Top2α) has essential roles during DNA replication, whereas its isoform Top2β is implicated in gene expression. Thakurela et al.show that Top2α is also required for stem-cell transcriptome regulation and primes developmental genes for activation by Top2β upon terminal differentiation.

    • Sudhir Thakurela
    • , Angela Garding
    •  & Vijay K. Tiwari
  • Article |

    Mutations in the gene that encodes the endosomal cation/proton antiporter NHE9 are implicated in neuropsychiatric disorders. In this study, the authors screen autism-associated variants in the human population and identify specific variants of NHE9 that are characterized by a loss of function in astrocytes.

    • Kalyan C. Kondapalli
    • , Anniesha Hack
    •  & Rajini Rao
  • Article |

    Cre recombinase is widely used to precisely manipulate genes and chromosomes, but it often displays off-target activity. Here, the authors improve the accuracy of Cre-mediated recombination by introducing specific mutations in the enzyme’s dimerization surface.

    • Nikolai Eroshenko
    •  & George M. Church
  • Article
    | Open Access

    Mulberry trees are the primary food source for silkworms, which are reared for the production of silk. In this study, He et al. present the draft genome sequence of Morus notabilisand find that it evolved significantly faster than other plants in the Rosales order.

    • Ningjia He
    • , Chi Zhang
    •  & Zhonghuai Xiang