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Genetics, Gene Therapy & Genetic Disease

  • HR repair pathway plays a crucial role in maintaining neural stem cell fate under irradiation stress
    Open Access
    HR repair pathway plays a crucial role in maintaining neural stem cell fate under irradiation stress

    Xiao Xu, Huanping An, Cheng Wu, Rong Sang, Litao Wu, Yuhan Lou, Xiaohang Yang, Yongmei Xi

    Xiao Xu ... Yongmei Xi

    Published 17 May 2023

    MRN complex and the HR repair pathway play a crucial role in the maintenance of neural stem cell fate under irradiation stress.

  • Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease
    Open Access
    Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease

    Dmitry Umerenkov, Alan Herbert, Dmitrii Konovalov, Anna Danilova, Nazar Beknazarov, Vladimir Kokh, Aleksandr Fedorov, Maria Poptsova

    Dmitry Umerenkov ... Maria Poptsova

    Published 10 May 2023

    Z-DNABERT uses the transformer algorithm to map genomic Z-DNA. We validate the approach using chemical footprinting data from live cells. We show the utility of the approach by mapping the Z-flipons discovered to Mendelian disease variants and various quantitative traits.

  • Rapid and precise genotyping of transgene zygosity in mice using an allele-specific method
    Open Access
    Rapid and precise genotyping of transgene zygosity in mice using an allele-specific method

    Jianqi Yang, Alison N DeVore, Daniel A Fu, Mackenzie M Spicer, Mengcheng Guo, Samantha G Thompson, Katelin E Ahlers-Dannen, Federica Polato, Andre Nussenzweig, Rory A Fisher

    Jianqi Yang ... Rory A Fisher

    Published 10 April 2023

    A novel, precise, rapid, and generalizable method to determine transgene zygosity in mice by allele-specific restriction enzyme digestion of PCR products from transgenes or homologous endogenous genes.

  • Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells
    Open Access
    Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells

    Michaela Krausová, Michaela Kreplová, Poulami Banik, Zuzana Cvačková, Jan Kubovčiak, Martin Modrák, Dagmar Zudová, Jiří Lindovský, Agnieszka Kubik-Zahorodna, Marcela Pálková, Michal Kolář, Jan Procházka, Radislav Sedláček, David Staněk

    Michaela Krausová ... David Staněk

    Published 5 April 2023

    This study shows that Prpf8 mutations associated with human retinal degeneration in mice alter circRNA expression in cerebellar granule cells and induce their apoptosis.

  • The role of <em>Limch1</em> alternative splicing in skeletal muscle function
    Open Access
    The role of Limch1 alternative splicing in skeletal muscle function

    Matthew S Penna, Rong-Chi Hu, George G Rodney, Thomas A Cooper

    Matthew S Penna ... Thomas A Cooper

    Published 28 March 2023

    This works identifies a novel, alternatively spliced isoform of LIMCH1, that is, developmentally regulated and specific to skeletal muscle. Knocking out the six skeletal muscle–specific exons of LIMCH1 leads to impaired skeletal muscle function in vivo and ex vivo.

  • A protocol for single nucleus RNA-seq from frozen skeletal muscle
    Open Access
    A protocol for single nucleus RNA-seq from frozen skeletal muscle

    Tyler GB Soule, Carly S Pontifex, Nicole Rosin, Matthew M Joel, Sukyoung Lee, Minh Dang Nguyen, Sameer Chhibber, Gerald Pfeffer

    Tyler GB Soule ... Gerald Pfeffer

    Published 13 March 2023

    The authors detail a method to isolate nuclei for single nucleus RNA sequencing from frozen, biobanked human skeletal muscle samples.

  • Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases
    Open Access
    Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases

    Liang Chang, Haining Jiao, Jiucheng Chen, Guanlin Wu, Ping Liu, Rong Li, Jianying Guo, Wenqing Long, Xiaojian Tang, Bingjie Lu, Haibin Xu, Han Wu

    Liang Chang ... Han Wu

    Published 21 February 2023

    cbNIPT by WGS and haplotype analysis predict the inherited genotypes for families with monogenic diseases and provide a potentially better solution for prenatal diagnosis of monogenic diseases.

  • A novel hypervariable variable number tandem repeat in the dopamine transporter gene (<em>SLC6A3</em>)
    Open Access
    A novel hypervariable variable number tandem repeat in the dopamine transporter gene (SLC6A3)

    Abner T Apsley, Emma R Domico, Max A Verbiest, Carly A Brogan, Evan R Buck, Andrew J Burich, Kathleen M Cardone, Wesley J Stone, Maria Anisimova, David J Vandenbergh

    Abner T Apsley ... David J Vandenbergh

    Published 8 February 2023

    This VNTR has a heterozygosity value of 0.93, forms G-tetrads, and is in low linkage disequilibrium with surrounding sequence, making it a new site for genetic analysis.

  • The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance
    Open Access
    The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

    Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Yuri Motorin, Clément Carré

    Mira Brazane ... Clément Carré

    Published 31 January 2023

    This study adds insights into FTSJ1 tRNA 2′-O-methylation–associated pathologies in humans and Drosophila by identification of novel FTSJ1 targets and neuron morphology defects.

  • Meiotic DNA exchanges in <em>C. elegans</em> are promoted by proximity to the synaptonemal complex
    Open Access
    Meiotic DNA exchanges in C. elegans are promoted by proximity to the synaptonemal complex

    David E Almanzar, Spencer G Gordon, Chloe Bristow, Antonia Hamrick, Lexy von Diezmann, Hanwenheng Liu, Ofer Rog

    David E Almanzar ... Ofer Rog

    Published 25 January 2023

    Exchanges between DNA molecules during meiosis are tightly controlled. This work shows that the synaptonemal complex is instrumental in regulating meiotic exchanges both between the parental chromosomes and between the sister chromatids.

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