Brief Communications

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  • The long noncoding RNA SCHLAP1 has been reported to act by depleting the SWI/SNF complex from genomic sites, but new data show that SWI/SNF remains localized to chromatin in the presence of SCHLAP1, suggesting that SCHLAP1 may act independently of SWI/SNF.

    • Jesse R. Raab
    • Keriayn N. Smith
    • Terry Magnuson
    Brief Communication
  • Individuals from a Greenlandic Inuit population with homozygous loss-of-function variants in ADCY3 (adenylate cyclase 3) have increased risk for obesity and type 2 diabetes. Carriers of rare ADCY3 variants in trans-ancestry populations also show increased association with type 2 diabetes.

    • Niels Grarup
    • Ida Moltke
    • Torben Hansen
    Brief Communication
  • Linda Richards, Paul Lockhart, Christel Depienne and colleagues identify heterozygous DCC mutations in four families and five sporadic individuals with agenesis of the corpus callosum (ACC). They report that DCC mutations result in variable dominant phenotypes with incomplete penetrance, including mirror movements and ACC associated with a favorable developmental prognosis.

    • Ashley P L Marsh
    • Delphine Heron
    • Christel Depienne
    Brief Communication
  • Johannes Beckers, Martin Hrabě de Angelis and colleagues use in vitro fertilization to demonstrate epigenetic germline inheritance of acquired metabolic disorders in mice. They show that a parental high-fat diet renders offspring more susceptible to developing obesity and diabetes.

    • Peter Huypens
    • Steffen Sass
    • Johannes Beckers
    Brief Communication
  • Rogier Versteeg and colleagues analyze the whole-genome sequences of 108 neuroblastoma samples and detect structural rearrangements of TERT in 23% of high-stage cases. TERT rearrangements are associated with increased TERT expression, increased telomere length and very poor prognosis.

    • Linda J Valentijn
    • Jan Koster
    • Rogier Versteeg
    Brief Communication
  • Yardena Samuels and colleagues report the analysis of 501 melanoma exomes and the identification of RASA2 as a tumor-suppressor gene mutated in 5% of melanomas. RASA2 mutations led to increased RAS activation, and RASA2 loss was associated with shorter patient survival times.

    • Rand Arafeh
    • Nouar Qutob
    • Yardena Samuels
    Brief Communication
  • Christopher Gordon, Cecilia Lo, Patrice Bouvagnet and colleagues report loss-of-function mutations in the MMP21 gene (encoding matrix metallopeptidase 21) that cause human heterotaxy with associated complex congenital heart defects. The authors confirm the role of MMP21 in heterotaxy and left-right patterning in zebrafish and mouse models.

    • Anne Guimier
    • George C Gabriel
    • Christopher T Gordon
    Brief Communication
  • Hajime Okita and colleagues show that clear-cell sarcoma of the kidney (CCSK) is characterized by recurrent in-frame, internal tandem duplications in BCOR. They detected BCOR alterations in all 20 CCSK tumors analyzed but not in any other pediatric renal tumors, suggesting a specific role for these in-frame duplications in driving CCSK oncogenesis.

    • Hitomi Ueno-Yokohata
    • Hajime Okita
    • Nobutaka Kiyokawa
    Brief Communication
  • Cisca Wijmenga and colleagues report fine mapping of the association signal in the MHC region in individuals with celiac disease. They identify five additional risk factors that are independent of HLA-DQ alleles and that account for 18% of the genetic risk for this disease.

    • Javier Gutierrez-Achury
    • Alexandra Zhernakova
    • Paul I W de Bakker
    Brief Communication