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Genetics, Gene Therapy & Genetic Disease

  • Transmembrane protease serine 2 (<em>TMPRSS2</em>) rs75603675, comorbidity, and sex are the primary predictors of COVID-19 severity
    Open Access
    Transmembrane protease serine 2 (TMPRSS2) rs75603675, comorbidity, and sex are the primary predictors of COVID-19 severity

    Gonzalo Villapalos-García, Pablo Zubiaur, Rebeca Rivas-Durán, Pilar Campos-Norte, Cristina Arévalo-Román, Marta Fernández-Rico, Lucio García-Fraile Fraile, Paula Fernández-Campos, Paula Soria-Chacartegui, Sara Fernández de Córdoba-Oñate, Pablo Delgado-Wicke, Elena Fernández-Ruiz, Isidoro González-Álvaro, Jesús Sanz, Francisco Abad-Santos, Ignacio de los Santos

    Gonzalo Villapalos-García ... Ignacio de los Santos

    Published 30 May 2022

    The TMPRSS2 rs75603675 genotype (OR = 0.586), dyslipidemia (OR = 2.289), sex (OR = 0.586), and the Charlson Comorbidity Index (OR = 1.126) were identified as the main predictors of COVID-19 severity in 817 patients who attended Hospital Universitario de La Princesa during March and April 2020.

  • Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations
    Open Access
    Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations

    Zixin Qin, Teng Huang, Maoni Guo, San Ming Wang

    Zixin Qin ... San Ming Wang

    Published 20 May 2022

    Deleterious variants in the DNA damage repair system can cause genome instability and increase cancer risk. The highly ethnic-specific DDR deleterious variation from this study suggests its potential relationship with different disease susceptibility in ethnic human populations.

  • miR-486 is essential for muscle function and suppresses a dystrophic transcriptome
    Open Access
    miR-486 is essential for muscle function and suppresses a dystrophic transcriptome

    Adrienne Samani, Rylie M Hightower, Andrea L Reid, Katherine G English, Michael A Lopez, J Scott Doyle, Michael J Conklin, David A Schneider, Marcas M Bamman, Jeffrey J Widrick, David K Crossman, Min Xie, David Jee, Eric C Lai, Matthew S Alexander

    Adrienne Samani ... Matthew S Alexander

    Published 5 May 2022

    The authors identify miR-486 as essential for normal muscle function and a driver of dystrophic transcriptomic pathways using mir-486 knockout mice and multiple sequencing platforms.

  • Analyzing efficacy, stability, and safety of AAV-mediated optogenetic hearing restoration in mice
    Open Access
    Analyzing efficacy, stability, and safety of AAV-mediated optogenetic hearing restoration in mice

    Burak Bali, Eva Gruber-Dujardin, Kathrin Kusch, Vladan Rankovic, Tobias Moser

    Burak Bali ... Tobias Moser

    Published 5 May 2022

    This longitudinal study revealed stable expression of the fast-gating channelrhodopsin f-Chrimson in cochlear neurons of mice over at least 2 yr upon a single postnatal AAV dosing of the cochlea.

  • The expression of essential selenoproteins during development requires SECIS-binding protein 2–like
    Open Access
    The expression of essential selenoproteins during development requires SECIS-binding protein 2–like

    Nora T Kiledjian, Rushvi Shah, Michael B Vetick, Paul R Copeland

    Nora T Kiledjian ... Paul R Copeland

    Published 24 February 2022

    This work reveals that the Sbp2 paralogue, Secisbp2-like, is required for selective selenoprotein synthesis when the function of Sbp2 is compromised.

  • MMD-associated <em>RNF213</em> SNPs encode dominant-negative alleles that globally impair ubiquitylation
    Open Access
    MMD-associated RNF213 SNPs encode dominant-negative alleles that globally impair ubiquitylation

    Abhishek Bhardwaj, Robert S Banh, Wei Zhang, Sachdev S Sidhu, Benjamin G Neel

    Abhishek Bhardwaj ... Benjamin G Neel

    Published 8 February 2022

    MMD-associated SNPs of RNF213 encode dominant-negative alleles that globally impair ubiquitylation by RNF213-UBE2D2.

  • Cis-regulatory hubs: a new 3D model of complex disease genetics with an application to schizophrenia
    Open Access
    Cis-regulatory hubs: a new 3D model of complex disease genetics with an application to schizophrenia

    Loïc Mangnier, Charles Joly-Beauparlant, Arnaud Droit, Steve Bilodeau, Alexandre Bureau

    Loïc Mangnier ... Alexandre Bureau

    Published 27 January 2022

    Genes and their regulatory elements are organized in neurons within 3D networks which model functional structures and explain schizophrenia genetic etiology.

  • Recruitment of Scc2/4 to double-strand breaks depends on γH2A and DNA end resection
    Open Access
    Recruitment of Scc2/4 to double-strand breaks depends on γH2A and DNA end resection

    Martin Scherzer, Fosco Giordano, Maria Solé Ferran, Lena Ström

    Martin Scherzer ... Lena Ström

    Published 27 January 2022

    DSB recruitment of the cohesin loader Scc2/4 relies on Tel1 and γH2A, but contrary to cohesin not on Mec1; binding emanates from the break site and depends on as well as coincides with end resection.

  • Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
    Open Access
    Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

    Mark Sicking, Martina Živná, Pratiti Bhadra, Veronika Barešová, Andrea Tirincsi, Drazena Hadzibeganovic, Kateřina Hodaňová, Petr Vyleťal, Jana Sovová, Ivana Jedličková, Martin Jung, Thomas Bell, Volkhard Helms, Anthony J Bleyer, Stanislav Kmoch, Adolfo Cavalié, Sven Lang

    Mark Sicking ... Sven Lang

    Published 21 January 2022

    Using cellular models of the ADTKD–SEC61A1 causing mutations V67G and T185A, this study reveals specific aberrations of protein transport and calcium homeostasis as a potential pathogenic mechanism.

  • Rbfox1 is required for myofibril development and maintaining fiber type–specific isoform expression in <em>Drosophila</em> muscles
    Open Access
    Rbfox1 is required for myofibril development and maintaining fiber type–specific isoform expression in Drosophila muscles

    Elena Nikonova, Amartya Mukherjee, Ketaki Kamble, Christiane Barz, Upendra Nongthomba, Maria L Spletter

    Elena Nikonova ... Maria L Spletter

    Published 7 January 2022

    Rbfox1 is required for the development of both fibrillar and tubular muscle fibers in adult Drosophila and interacts with Bruno1 to define fiber type–specific patterns of alternative splicing.

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