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Genetics, Gene Therapy & Genetic Disease

  • MagnEdit—interacting factors that recruit DNA-editing enzymes to single base targets
    Open Access
    MagnEdit—interacting factors that recruit DNA-editing enzymes to single base targets

    Jennifer L McCann, Daniel J Salamango, Emily K Law, William L Brown, Reuben S Harris

    Jennifer L McCann ... Reuben S Harris

    Published 24 February 2020

    This study reports a new, non-covalent strategy—called MagnEdit—that attracts the DNA cytosine deaminase APOBEC3B to a Cas9-directed site for C-to-T editing.

  • The iron–sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activation
    Open Access
    The iron–sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activation

    Anna K Simon, Sandra Kummer, Sebastian Wild, Aleksandra Lezaja, Federico Teloni, Stanislaw K Jozwiakowski, Matthias Altmeyer, Kerstin Gari

    Anna K Simon ... Kerstin Gari

    Published 18 February 2020

    The iron–sulfur cluster helicase DDX11 promotes the generation of ssDNA and the phosphorylation of CHK1 at serine-345, possibly by unwinding replication-dependent DNA secondary structures.

  • Meiotic sex chromosome cohesion and autosomal synapsis are supported by <em>Esco2</em>
    Open Access
    Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2

    François McNicoll, Anne Kühnel, Uddipta Biswas, Kai Hempel, Gabriela Whelan, Gregor Eichele, Rolf Jessberger

    François McNicoll ... Rolf Jessberger

    Published 12 February 2020

    This study reveals a role for the cohesin modifier ESCO2 for maintenance of sister chromatid cohesion in mammalian meiosis and a specific weakness of cohesion within male sex chromosome chromatin

  • Essential role of the <em>Crk</em> family-dosage in DiGeorge-like anomaly and metabolic homeostasis
    Open Access
    Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis

    Akira Imamoto, Sewon Ki, Leiming Li, Kazunari Iwamoto, Venkat Maruthamuthu, John Devany, Ocean Lu, Tomomi Kanazawa, Suxiang Zhang, Takuji Yamada, Akiyoshi Hirayama, Shinji Fukuda, Yutaka Suzuki, Mariko Okada

    Akira Imamoto ... Mariko Okada

    Published 10 February 2020

    This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism

  • TRAP1 chaperone protein mutations and autoinflammation
    Open Access
    TRAP1 chaperone protein mutations and autoinflammation

    Ariane SI Standing, Ying Hong, Coro Paisan-Ruiz, Ebun Omoyinmi, Alan Medlar, Horia Stanescu, Robert Kleta, Dorota Rowcenzio, Philip Hawkins, Helen Lachmann, Michael F McDermott, Despina Eleftheriou, Nigel Klein, Paul A Brogan

    Ariane SI Standing ... Paul A Brogan

    Published 27 December 2019

    This study identifies patients with autoinflammation and mutations affecting the mitochondrial/ER protein chaperone TRAP1, either alone or digenic, with MEFV mutation possibly synergizing to produce severe disease. TRAP1 mutations lead to increased mitochondrial reactive oxygen species and may contribute to autoinflammation.

  • Distinct signals and immune cells drive liver pathology and glomerulonephritis in ABIN1[D485N] mice
    Open Access
    Distinct signals and immune cells drive liver pathology and glomerulonephritis in ABIN1[D485N] mice

    Sambit Kumar Nanda, Tsvetana Petrova, Francesco Marchesi, Marek Gierlinski, Momchil Razsolkov, Katherine L Lee, Stephen W Wright, Vikram R Rao, Philip Cohen, J Simon C Arthur

    Sambit Kumar Nanda ... J Simon C Arthur

    Published 6 November 2019

    This article shows that liver and kidney damage in a lupus-prone mouse line occurs by different mechanisms and that only drugs targeting core components of signaling pathway, such as IRAK4, are able to suppress all facets of the disease.

  • Unfolded protein-independent IRE1 activation contributes to multifaceted developmental processes in Arabidopsis
    Open Access
    Unfolded protein-independent IRE1 activation contributes to multifaceted developmental processes in Arabidopsis

    Kei-ichiro Mishiba, Yuji Iwata, Tomofumi Mochizuki, Atsushi Matsumura, Nanami Nishioka, Rikako Hirata, Nozomu Koizumi

    Kei-ichiro Mishiba ... Nozomu Koizumi

    Published 10 October 2019

    The Arabidopsis unfolded protein response transducer IRE1 contributes to male gametophyte development using an alternative activation mechanism bypassing the unfolded protein-sensing domain.

  • Heterozygous loss of function of <em>IQSEC2</em>/<em>Iqsec2</em> leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
    Open Access
    Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

    Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica HN Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge

    Matilda R Jackson ... Cheryl Shoubridge

    Published 22 August 2019

    We show that the loss of Iqsec2 function in mice recapitulates key aspects of the human phenotype, irrespective of the X-inactivation status of the gene between species. Our understanding of the traditional X-chromosome inheritance with heterozygous female sparing needs revisiting.

  • PRDM9 forms a trimer by interactions within the zinc finger array
    Open Access
    PRDM9 forms a trimer by interactions within the zinc finger array

    Theresa Schwarz, Yasmin Striedner, Andreas Horner, Karin Haase, Jasmin Kemptner, Nicole Zeppezauer, Philipp Hermann, Irene Tiemann-Boege

    Theresa Schwarz ... Irene Tiemann-Boege

    Published 15 July 2019

    PRDM9 forms a trimer as a soluble protein and in complex with DNA mediated by the ZnF domain. Five ZnFs are already sufficient for multimerization and only one DNA molecule is complexed in the trimer.

  • CRISPR-induced double-strand breaks trigger recombination between homologous chromosome arms
    Open Access
    CRISPR-induced double-strand breaks trigger recombination between homologous chromosome arms

    Erich Brunner, Ryohei Yagi, Marc Debrunner, Dezirae Beck-Schneider, Alexa Burger, Eliane Escher, Christian Mosimann, George Hausmann, Konrad Basler

    Erich Brunner ... Konrad Basler

    Published 13 June 2019

    CRISPR–Cas9 enables recombination between homologous chromosome arms at predefined sites and also underscores the need for caution when applying CRISPR technologies in translational medicine.

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