Read our August issue

Read our August issue

This month's issue of Nature Genetics features articles on synthetic cycling circuits, knockout mouse phenotypes and pediatric T cell leukemia

Latest Research

  • Letter |

    Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP, TP53RK, TPRKB and LAGE3, genes encoding KEOPS-complex subunits, cause Galloway–Mowat syndrome, a recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Functional studies suggest that the phenotypes result from impaired protein translation, thus leading to endoplasmic reticulum stress and apoptosis.

    • Daniela A Braun
    • , Jia Rao
    • , Geraldine Mollet
    • , David Schapiro
    • , Marie-Claire Daugeron
    • , Weizhen Tan
    • , Olivier Gribouval
    • , Olivia Boyer
    • , Patrick Revy
    • , Tilman Jobst-Schwan
    • , Johanna Magdalena Schmidt
    • , Jennifer A Lawson
    • , Denny Schanze
    • , Shazia Ashraf
    • , Jeremy F P Ullmann
    • , Charlotte A Hoogstraten
    • , Nathalie Boddaert
    • , Bruno Collinet
    • , Gaëlle Martin
    • , Dominique Liger
    • , Svjetlana Lovric
    • , Monica Furlano
    • , I Chiara Guerrera
    • , Oraly Sanchez-Ferras
    • , Jennifer F Hu
    • , Anne-Claire Boschat
    • , Sylvia Sanquer
    • , Björn Menten
    • , Sarah Vergult
    • , Nina De Rocker
    • , Merlin Airik
    • , Tobias Hermle
    • , Shirlee Shril
    • , Eugen Widmeier
    • , Heon Yung Gee
    • , Won-Il Choi
    • , Carolin E Sadowski
    • , Werner L Pabst
    • , Jillian K Warejko
    • , Ankana Daga
    • , Tamara Basta
    • , Verena Matejas
    • , Karin Scharmann
    • , Sandra D Kienast
    • , Babak Behnam
    • , Brendan Beeson
    • , Amber Begtrup
    • , Malcolm Bruce
    • , Gaik-Siew Ch'ng
    • , Shuan-Pei Lin
    • , Jui-Hsing Chang
    • , Chao-Huei Chen
    • , Megan T Cho
    • , Patrick M Gaffney
    • , Patrick E Gipson
    • , Chyong-Hsin Hsu
    • , Jameela A Kari
    • , Yu-Yuan Ke
    • , Cathy Kiraly-Borri
    • , Wai-ming Lai
    • , Emmanuelle Lemyre
    • , Rebecca Okashah Littlejohn
    • , Amira Masri
    • , Mastaneh Moghtaderi
    • , Kazuyuki Nakamura
    • , Fatih Ozaltin
    • , Marleen Praet
    • , Chitra Prasad
    • , Agnieszka Prytula
    • , Elizabeth R Roeder
    • , Patrick Rump
    • , Rhonda E Schnur
    • , Takashi Shiihara
    • , Manish D Sinha
    • , Neveen A Soliman
    • , Kenza Soulami
    • , David A Sweetser
    • , Wen-Hui Tsai
    • , Jeng-Daw Tsai
    • , Rezan Topaloglu
    • , Udo Vester
    • , David H Viskochil
    • , Nithiwat Vatanavicharn
    • , Jessica L Waxler
    • , Klaas J Wierenga
    • , Matthias T F Wolf
    • , Sik-Nin Wong
    • , Sebastian A Leidel
    • , Gessica Truglio
    • , Peter C Dedon
    • , Annapurna Poduri
    • , Shrikant Mane
    • , Richard P Lifton
    • , Maxime Bouchard
    • , Peter Kannu
    • , David Chitayat
    • , Daniella Magen
    • , Bert Callewaert
    • , Herman van Tilbeurgh
    • , Martin Zenker
    • , Friedhelm Hildebrandt
    •  & Corinne Antignac
  • Letter |

    Adam Rubin, Brook Barajas, Mayra Furlan-Magaril and colleagues studied dynamic chromatin across the genome of differentiating human skin keratinocytes, identifying both stable and reorganizing classes of transcriptional enhancers.

    • Adam J Rubin
    • , Brook C Barajas
    • , Mayra Furlan-Magaril
    • , Vanessa Lopez-Pajares
    • , Maxwell R Mumbach
    • , Imani Howard
    • , Daniel S Kim
    • , Lisa D Boxer
    • , Jonathan Cairns
    • , Mikhail Spivakov
    • , Steven W Wingett
    • , Minyi Shi
    • , Zhixin Zhao
    • , William J Greenleaf
    • , Anshul Kundaje
    • , Michael Snyder
    • , Howard Y Chang
    • , Peter Fraser
    •  & Paul A Khavari
  • Letter |

    Greg Gibson and colleagues integrate summary-level GWAS and eQTL data with RNA-seq data from a cohort of pediatric Crohn's disease and report transcriptional risk scores that identify patients who will progress to complicated disease. Their dissection of eQTL effects may be used to distinguish genes whose association with disease is through promotion or protection.

    • Urko M Marigorta
    • , Lee A Denson
    • , Jeffrey S Hyams
    • , Kajari Mondal
    • , Jarod Prince
    • , Thomas D Walters
    • , Anne Griffiths
    • , Joshua D Noe
    • , Wallace V Crandall
    • , Joel R Rosh
    • , David R Mack
    • , Richard Kellermayer
    • , Melvin B Heyman
    • , Susan S Baker
    • , Michael C Stephens
    • , Robert N Baldassano
    • , James F Markowitz
    • , Mi-Ok Kim
    • , Marla C Dubinsky
    • , Judy Cho
    • , Bruce J Aronow
    • , Subra Kugathasan
    •  & Greg Gibson
  • Analysis |

    Andrey Rzhetsky and colleagues analyze electronic medical records from over one-third of the US population to estimate disease heritability and to determine the genetic and environmental contributions to disease variance. They obtain 84 new heritability estimates and find that the genetic correlation values for disease pairs differ from their environmental correlation values.

    • Kanix Wang
    • , Hallie Gaitsch
    • , Hoifung Poon
    • , Nancy J Cox
    •  & Andrey Rzhetsky
  • Article |

    Henry Sucov and colleagues demonstrate substantial natural variation in the capacity of the mouse heart to regenerate after injury and link this to the prevalence of mononuclear diploid cardiomyocytes. They identify Tnni3k as one gene that contributes to the observed variation and validate its role through mouse knockout and zebrafish overexpression studies.

    • Michaela Patterson
    • , Lindsey Barske
    • , Ben Van Handel
    • , Christoph D Rau
    • , Peiheng Gan
    • , Avneesh Sharma
    • , Shan Parikh
    • , Matt Denholtz
    • , Ying Huang
    • , Yukiko Yamaguchi
    • , Hua Shen
    • , Hooman Allayee
    • , J Gage Crump
    • , Thomas I Force
    • , Ching-Ling Lien
    • , Takako Makita
    • , Aldons J Lusis
    • , S Ram Kumar
    •  & Henry M Sucov
  • Article |

    Mathieu Lupien and colleagues analyze data from primary prostate tumors with and without TMPRSS2–ERG (T2E) rearrangements. They find that in T2E tumors, there is a distinct regulatory landscape resulting from the co-option of transcription factors by ERG which causes dependency on NOTCH signaling.

    • Ken J Kron
    • , Alexander Murison
    • , Stanley Zhou
    • , Vincent Huang
    • , Takafumi N Yamaguchi
    • , Yu-Jia Shiah
    • , Michael Fraser
    • , Theodorus van der Kwast
    • , Paul C Boutros
    • , Robert G Bristow
    •  & Mathieu Lupien

News & Comment

  • Editorial |

    This month's research articles span the range of scales of gene-regulatory mechanisms, from a deceptively simple gene therapy vector, via synthetic gene expression circuits, to extremely intricate epigenetic switches. We encourage investigation of synthetic circuits exploring the functions of the 3D genome.

  • News and Views |

    DNA copy number represents an essential parameter in the dynamics of synthetic gene circuits but typically is not explicitly considered. A new study demonstrates how dynamic control of DNA copy number can serve as an effective strategy to program robust oscillations in gene expression circuits.

    • Feilun Wu
    •  & Lingchong You
  • News and Views |

    Severe allergic disease is common, and few monogenic causes of atopy have been described. A new study that convincingly links severe atopic dermatitis to heterozygous CARD11 mutations with dominant-interfering activity serves as a timely reminder that clinicians should consider the possibility of an underlying monogenic immune disorder when caring for patients suffering from severe allergic disease.

    • Catherine M Biggs
    • , Henry Y Lu
    •  & Stuart E Turvey
  • News and Views |

    A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans. This study provides evidence of positive selection for short stature at GDF5 in modern humans, as well as in archaic Neandertals and Denisovans.

    • Guillaume Lettre
  • News and Views |

    Promoters and enhancers have long been regarded as distinct elements, a notion that has been challenged more recently. Two new studies now identify promoters that function as long-range enhancers in vivo to regulate the transcription of distal genes.

    • Rui R Catarino
    • , Christoph Neumayr
    •  & Alexander Stark
  • Editorial |

    This journal and Scientific Data are calling for submissions containing linked open data models that embody and extend the FAIR principles: that data should be findable, accessible, interoperable and reusable by both humans and machines. These principles are achievable with existing resources, languages and vocabularies to enable computers to combine and reanalyze data sets automatically and lead humans to new discoveries.

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