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Genetics, Gene Therapy & Genetic Disease

  • 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.

  • The hypoxia-response pathway modulates RAS/MAPK–mediated cell fate decisions in <em>Caenorhabditis elegans</em>
    Open Access
    The hypoxia-response pathway modulates RAS/MAPK–mediated cell fate decisions in Caenorhabditis elegans

    Sabrina Maxeiner, Judith Grolleman, Tobias Schmid, Jan Kammenga, Alex Hajnal

    Sabrina Maxeiner ... Alex Hajnal

    Published 24 May 2019

    Atmospheric oxygen levels modulate the RAS/MAPK signaling pathway in the nematode Caenorhabditis elegans through a cross-talk between the DELTA/NOTCH and hypoxia signaling pathways. These mechanisms may permit the animals to adapt their development to changes in the environment.

  • The impact of poly-A microsatellite heterologies in meiotic recombination
    Open Access
    The impact of poly-A microsatellite heterologies in meiotic recombination

    Angelika Heissl, Andrea J Betancourt, Philipp Hermann, Gundula Povysil, Barbara Arbeithuber, Andreas Futschik, Thomas Ebner, Irene Tiemann-Boege

    Angelika Heissl ... Irene Tiemann-Boege

    Published 25 April 2019

    Meiosis strongly influences the transmission and evolution of heterozygous poly-A repeats as measured experimentally in a large collection of single recombination products in a human hotspot.

  • Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology
    Open Access
    Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology

    Yiran Wang, Chongchong Xu, Lin Ma, Yongchao Mou, Bowen Zhang, Shanshan Zhou, Yue Tian, Jessica Trinh, Xiaoqing Zhang, Xue-Jun Li

    Yiran Wang ... Xue-Jun Li

    Published 25 March 2019

    This study has established a versatile human SMN2 reporter line for drug screening and identified a novel strategy of targeting cysteine proteases for rescuing SMA pathological phenotypes.

  • <em>PISD</em> is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
    Open Access
    PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

    Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Adam J Cornish, Ryan E Lamont, Francois P Bernier, David Sinasac, Jillian S Parboosingh, Care4Rare Canada Consortium, Jean E Vance, Steven M Claypool, A Micheil Innes, Timothy E Shutt

    Tian Zhao ... Timothy E Shutt

    Published 11 March 2019

    This work demonstrates that pathogenic variants in PISD cause mitochondrial disease and suggests a novel mechanistic link whereby impaired lipid content in the inner mitochondrial membrane alters the activity of inner mitochondrial membrane proteases.

  • The small and large ribosomal subunits depend on each other for stability and accumulation
    Open Access
    The small and large ribosomal subunits depend on each other for stability and accumulation

    Brian Gregory, Nusrat Rahman, Ananth Bommakanti, Md Shamsuzzaman, Mamata Thapa, Alana Lescure, Janice M Zengel, Lasse Lindahl

    Brian Gregory ... Lasse Lindahl

    Published 5 March 2019

    Stopping 60S assembly blocks accumulation of 40S by post-assembly turnover, whereas inhibiting 40S assembly allows 60S assembly but results in fragmentation of 25S rRNA.

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