Genetics

  • Article |

    Palindromic DNA sequences in the genome can cause gross chromosomal rearrangements. Inagaki et al.demonstrate how the pathways of Holliday-junction resolution and antigen-receptor gene rearrangement interact to process cruciform conformation of palindrome DNA into chromosomal translocations in human embryonic kidney cells.

    • Hidehito Inagaki
    • , Tamae Ohye
    •  & Hiroki Kurahashi
  • Article
    | Open Access

    Tillering is a multigenic complex trait that influences grain yield in cereal; however, the molecular network for its regulation remains unclear. Guo et al.show that OsMADS57, a transcription factor controlled by miR444a, interacts with OsTEOSINTE BRANCHED1 and targets DWARF14 to control tillering in rice.

    • Siyi Guo
    • , Yunyuan Xu
    •  & Kang Chong
  • Article
    | Open Access

    The factors that modulate growth rate of the human malaria parasite Plasmodium falciparum remain poorly understood. Here Scherf and collaborators demonstrate that the Plasmodiumsirtuin PfSir2a regulates the transcription of ribosomal DNA, thereby modulating parasite proliferation rate and virulence.

    • Liliana Mancio-Silva
    • , Jose Juan Lopez-Rubio
    •  & Artur Scherf
  • Article
    | Open Access

    Sorghum is a drought-adapted cereal, but the grains have lower digestibility than other cereal crops. This work shows that a low-frequency allele type in the starch metabolic gene pullulanase is associated with increased digestibility, which may help improve sorghum yield and therefore food security.

    • Edward K. Gilding
    • , Celine H. Frère
    •  & Ian D. Godwin
  • Article
    | Open Access

    The Chinese tree shrew, Tupaia belangeri chinensis, has been proposed as a potential animal model in biomedical research and drug safety testing. This study presents the full genome of the Chinese tree shrew, identifying common features between the tree shrew and primates.

    • Yu Fan
    • , Zhi-Yong Huang
    •  & Yong-Gang Yao
  • Article
    | Open Access

    A variant in the IFITM3gene increases the risk of severe influenza, but homozygosity is rare in Caucasians. The authors show that the variant gene is homozygous in 25% of healthy Chinese people, and 69% of those with severe pandemic influenza, suggesting that this gene influences the epidemiology of influenza in South-East Asia.

    • Yong-Hong Zhang
    • , Yan Zhao
    •  & Tao Dong
  • Article
    | Open Access

    The mitochondrial protease CLPP is found in most eukaryotic organisms but its biological role has been unclear. Here Osiewacz and colleagues show that deletion of CLPP extends lifespan of the filamentous fungus Podospora anserina, and that human and fungal CLPP are functionally conserved.

    • Fabian Fischer
    • , Andrea Weil
    •  & Heinz D. Osiewacz
  • Article
    | Open Access

    Plant pathogens encode effector proteins that trigger immunity in plants carrying appropriate resistance genes. Here Qutob et al. show non-Mendelian interactions between naturally occurring Phytophthora sojaealleles that result in transgenerational gene silencing and gain of virulence in soybean plants.

    • Dinah Qutob
    • , B. Patrick Chapman
    •  & Mark Gijzen
  • Article
    | Open Access

    The Prunus mume was domesticated in China over 3,000 years ago and is an important ornamental plant and fruit. Here Qixiang Zhang et al.obtain the first assembly of its genome with a combination of next-generation sequencing, whole-genome mapping and restriction-site-associated DNA.

    • Qixiang Zhang
    • , Wenbin Chen
    •  & Jun Wang
  • Article |

    During embryonic development, midline fluid flow results in asymmetric nodal gene expression. Using genetic manipulations and mathematical modelling, Nakamura et al. find that expression of the nodal antagonist Cerl2 is regulated post-transcriptionally, and that asymmetry is maintained by Wnt-Cerl2 feedback loops.

    • Tetsuya Nakamura
    • , Daisuke Saito
    •  & Hiroshi Hamada
  • Article
    | Open Access

    Genetic modification in insects mostly involves the use of fluorescent markers to identify successful transformation. Here Osanai-Futahashi et al.report a marker system based on changes in melanin pigmentation that allows the identification of genetically modified insects with the naked eye.

    • Mizuko Osanai-Futahashi
    • , Takahiro Ohde
    •  & Hideki Sezutsu
  • Article |

    RNA viruses are known to rapidly evolve new features through errors in replication and reshuffling of genomic segments. These authors report another strategy used by the measles virus to improve infectivity; the cooperation between wild-type and mutant fusion proteins in the same viral particle.

    • Yuta Shirogane
    • , Shumpei Watanabe
    •  & Yusuke Yanagi
  • Article |

    The amount of data supplied by next-generation sequencing technologies presents a challenge for traditional algorithms to detect single-nucleotide polymorphisms. Xu et al.develop an efficient detection program and demonstrate its utility by identifying polymorphisms in cancer genomes and human populations.

    • Feng Xu
    • , Weixin Wang
    •  & Junwen Wang
  • Article |

    While human embryonic stem cells (ESC) hold great therapeutic promise, many aspects of their basic biology remain poorly understood. Conklin et al.show that too much or too little activation of RB family proteins is detrimental to human ESC populations and identify unique cell cycle regulatory networks in these cells.

    • Jamie F. Conklin
    • , Julie Baker
    •  & Julien Sage
  • Article
    | Open Access

    Abnormal human embryo development is implicated in the embryo arrest observed during in vitrofertilization. Chavez and colleagues perform time-lapse imaging on human embryos and find that chromosomally abnormal embryos exhibit diverse cell cycle parameters that may contribute to arrest.

    • Shawn L. Chavez
    • , Kevin E. Loewke
    •  & Renee A. Reijo Pera
  • Article
    | Open Access

    Camels are essential means of transport in deserts, but we know little about the biology of these extraordinary mammals. This study reports the genome sequences of the wild and domestic bactrian camel, offering a glimpse into the camels’ genetic adaptation to harsh environments.

    • Jirimutu
    • , Zhen Wang
    •  & He Meng
  • Article
    | Open Access

    Hunter-gatherer populations in Africa preserve unique information about human history, but genetic sub-structures of these populations remain unclear. Using newly designed microarray and statistical methods, these authors analyse genetic compositions of southern African populations and reveal an ancient link between southern and eastern Africa.

    • Joseph K. Pickrell
    • , Nick Patterson
    •  & Brigitte Pakendorf
  • Article
    | Open Access

    Fragile X syndrome is a major genetic cause of autism and is caused by loss of the fragile X mental retardation protein. In a mouse model of fragile X syndrome, Junget al. show that an absence of neuronal endocannabinoid signalling is responsible for the neurophysiological and behavioural defects.

    • Kwang-Mook Jung
    • , Marja Sepers
    •  & Olivier J. Manzoni
  • Article |

    The paratympanic organ in the avian middle ear is similar to the fish spiracular organ, but its developmental origin is unresolved. O'Neillet al. use fate mapping techniques to show that the avian paratympanic organ and its afferent neurons arise from a previously undiscovered neurogenic placode.

    • Paul O'Neill
    • , Siu-Shan Mak
    •  & Clare V.H. Baker
  • Article |

    The mitochondrial transcription factor A (TFAM) mediates both mitochondrial transcription and DNA compaction, but how it achieves these two functions is unknown. In this study, TFAM is shown to slide along DNA and cause local melting, suggesting a mechanism for how TFAM modulates both transcription and compaction.

    • Géraldine Farge
    • , Niels Laurens
    •  & Gijs J.L. Wuite
  • Article |

    Gene-expression divergence produces phenotypic diversity, but the molecular basis for this is not clear. Here, a genome-wide study ofcis- and trans-regulation in Arabidopsisallopolyploids and their progenitors provides evidence for natural selection and epigenetic regulation during evolution and speciation.

    • Xiaoli Shi
    • , Danny W-K. Ng
    •  & Z. Jeffrey Chen
  • Article |

    Embryonic stem cells have a shortened cell cycle that allows for rapid proliferation, but the exact mechanisms are unclear. Here, a microRNA target, Trim71, is shown to inhibit the expression of a cyclin-dependent kinase inhibitor, thus enabling the G1–S phase cell cycle transition in embryonic stem cells.

    • Hao-Ming Chang
    • , Natalia J. Martinez
    •  & Richard I. Gregory
  • Article
    | Open Access

    In mammalian cells, ABC transporter proteins were thought to exclusively export a range of substrates out of cells. Quazi and colleagues show that, in retinal photoreceptor cells, ABCA4 is acting as an importer of phospholipids and that mutations known to cause Stargardt disease decrease its activity.

    • Faraz Quazi
    • , Stepan Lenevich
    •  & Robert S. Molday
  • Article
    | Open Access

    Protein L-isoaspartyl methyltransferase (PIMT) is a carboxyl methyltransferase, but its role in regulating the tumour suppressor p53 is unclear. Here, PIMT is shown to methylate p53, obstructing the tumour suppressor function of p53 through reduced protein levels and stability.

    • Jae-Cheol Lee
    • , Sung-Ung Kang
    •  & Jeung-Whan Han
  • Article
    | Open Access

    In several Hymenoptera species - ants, bees and wasps - sexual fate is determined by the allelic composition at the complementary sex - determiner locus. This study identifies the honeybeecomplementary sex - determinerin bumble bee and ant orthologues, previously thought to be unique to the honeybee lineage.

    • Sandra Schmieder
    • , Dominique Colinet
    •  & Marylène Poirié
  • Article |

    Inbreeding reduces the fitness of birds and mammals, but at which stage in development this occurs is not always clear. Hemmingset al. show that when closely related zebra finches breed together, fertilisation proceeds normally, but the offspring are more likely to die during development of the embryo.

    • N.L. Hemmings
    • , J. Slate
    •  & T.R. Birkhead
  • Article
    | Open Access

    Catch certificates and eco-labels are used to control illegal fishing worldwide, however, independent control methods are needed. Here, gene-associated SNPs are used to assign individual marine fish back to their population of origin with high precision, with potential application for illegal fishing control.

    • Einar E. Nielsen
    • , Alessia Cariani
    •  & Gary R. Carvalho
  • Article |

    Epigenetic and genetic factors have a role in obesity but the role of epigenetics in this disease is unclear. Here, Liet al. investigated global DNA methylation patterns in three breeds of pigs that have different fat contents, providing a resource for the further analysis of differentially methylated gene promoters in obesity.

    • Mingzhou Li
    • , Honglong Wu
    •  & Ruiqiang Li
  • Article |

    SINEs are retrotransposons that insert exact copies of themselves into genomes. Using a marked copy of a SINE, Yadavet al. show that the sequences of newly transposed SINEs are a combination of marked and existing SINEs, suggesting a mechanism for the formation of mosaic SINEs.

    • Vijay Pal Yadav
    • , Prabhat Kumar Mandal
    •  & Sudha Bhattacharya
  • Article
    | Open Access

    Fungus-growing ants cultivate fungi for food, but it is unclear whether single ant and fungal species are exclusive to one another. This study ofC. wheeleriants and their fungi shows that each ant species has been associated with a single fungal cultivar species for millions of years and that ant speciation coincides with shifts in fungal use.

    • Natasha J. Mehdiabadi
    • , Ulrich G. Mueller
    •  & Ted R. Schultz
  • Article |

    Putative fossil melanosomes have been reported but, because their shape and size correspond well with those of bacteria, further evidence is required to confirm their identity. This study reports evidence of melanin in association with melanosome-like microbodies in an argentinoid fish eye from the early Eocene.

    • Johan Lindgren
    • , Per Uvdal
    •  & Volker Thiel
  • Article |

    InArabidopsis the photoperiod pathway promotes flowering in response to longer days, but during short days flowering depends on gibberellin accumulation. This study shows that TEMPRANILLO downregulation is required to induce flowering, as TEMPRANILLOgenes repress floral induction in the photoperiod and gibberellin pathways.

    • Michela Osnato
    • , Cristina Castillejo
    •  & Soraya Pelaz
  • 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