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Genetics, Gene Therapy & Genetic Disease

  • A novel <em>canis lupus familiaris</em> reference genome improves variant resolution for use in breed-specific GWAS
    Open Access
    A novel canis lupus familiaris reference genome improves variant resolution for use in breed-specific GWAS

    Robert A Player, Ellen R Forsyth, Kathleen J Verratti, David W Mohr, Alan F Scott, Christopher E Bradburne

    Robert A Player ... Christopher E Bradburne

    Published 29 January 2021

    This paper describes the economical optimization of DNA extraction, short and long read sequencing, and bioinformatic assembly, which in turn improves mapping and variant resolution of short-read sequenced, same-breed dogs for association studies. This methodology is applicable for any investigators planning a genome-wide association study.

  • Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models
    Open Access
    Genetic and stochastic influences upon tumor formation and tumor types in Li-Fraumeni mouse models

    Chang S Chan, Yvonne Sun, Hua Ke, Yuhan Zhao, Merzu Belete, Cen Zhang, Zhaohui Feng, Arnold J Levine, Wenwei Hu

    Chang S Chan ... Wenwei Hu

    Published 29 December 2020

    This study used mice heterozygous for Tp53 mutations with different genetic backgrounds to investigate the genetic or stochastic factors that modify the penetrance of tumor formation by Tp53 mutation.

  • Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy
    Open Access
    Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy

    Anne Rietz, Kevin J Hodgetts, Hrvoje Lusic, Kevin M Quist, Erkan Y Osman, Christian L Lorson, Elliot J Androphy

    Anne Rietz ... Elliot J Androphy

    Published 24 November 2020

    We describe drug treatment paradigms that allow investigation of cellular and molecular pathogenesis at different stages of spinal muscular atrophy in a mouse model.

  • Inhibition of a transcriptional repressor rescues hearing in a splicing factor–deficient mouse
    Open Access
    Inhibition of a transcriptional repressor rescues hearing in a splicing factor–deficient mouse

    Yoko Nakano, Susan Wiechert, Bernd Fritzsch, Botond Bánfi

    Yoko Nakano ... Botond Bánfi

    Published 21 October 2020

    The vital role of the splicing factor SRRM4 in vestibular and inner hair cells of the ear is inactivation of the gene repressor REST; however, in outer hair cells, SRRM4 is dispensable for REST inactivation, which SRRM3 accomplishes independently.

  • Incipient sympatric speciation in wild barley caused by geological-edaphic divergence
    Open Access
    Incipient sympatric speciation in wild barley caused by geological-edaphic divergence

    Kexin Li, Xifeng Ren, Xiaoying Song, Xiujuan Li, Yu Zhou, Eli Harlev, Dongfa Sun, Eviatar Nevo

    Kexin Li ... Eviatar Nevo

    Published 20 October 2020

    Sympatric speciation is still contentious but here based on genome-wide analysis; we show incipient sympatric speciation of an emerging new wild barley species from Hordeum spontaneum, the progenitor of all cultivated barleys at “Evolution Plateau” (EP), Upper Galilee, Israel.

  • multicrispr: gRNA design for prime editing and parallel targeting of thousands of targets
    Open Access
    multicrispr: gRNA design for prime editing and parallel targeting of thousands of targets

    Aditya M Bhagwat, Johannes Graumann, Rene Wiegandt, Mette Bentsen, Jordan Welker, Carsten Kuenne, Jens Preussner, Thomas Braun, Mario Looso

    Aditya M Bhagwat ... Mario Looso

    Published 9 September 2020

    A bioinformatics R package for a fast and generic guideRNA design, optimized for large-scale perturbation assays.

  • Biochemical and functional characterization of a meiosis-specific Pch2/ORC AAA+ assembly
    Open Access
    Biochemical and functional characterization of a meiosis-specific Pch2/ORC AAA+ assembly

    María Ascensión Villar-Fernández, Richard Cardoso da Silva, Magdalena Firlej, Dongqing Pan, Elisabeth Weir, Annika Sarembe, Vivek B Raina, Tanja Bange, John R Weir, Gerben Vader

    María Ascensión Villar-Fernández ... Gerben Vader

    Published 21 August 2020

    The AAA+ protein Pch2 forms a biochemical complex with Orc1/ORC to suppress DNA break formation in the meiotic G2/prophase.

  • DDX5 promotes oncogene C3 and FABP1 expressions and drives intestinal inflammation and tumorigenesis
    Open Access
    DDX5 promotes oncogene C3 and FABP1 expressions and drives intestinal inflammation and tumorigenesis

    Nazia Abbasi, Tianyun Long, Yuxin Li, Brian A Yee, Benjamin S Cho, Juan E Hernandez, Evelyn Ma, Parth R Patel, Debashis Sahoo, Ibrahim M Sayed, Nissi Varki, Soumita Das, Pradipta Ghosh, Gene W Yeo, Wendy Jia Men Huang

    Nazia Abbasi ... Wendy Jia Men Huang

    Published 18 August 2020

    In intestinal epithelial cells (IECs), DDX5 promotes the expression of immune response genes and oncogenes posttranscriptionally and is a novel therapeutic target for treating colitis and intestinal cancers.

  • Small molecule inhibitors and a kinase-dead expressing mouse model demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cells
    Open Access
    Small molecule inhibitors and a kinase-dead expressing mouse model demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cells

    Somsundar V Muralidharan, Lisa M Nilsson, Mattias F Lindberg, Jonas A Nilsson

    Somsundar V Muralidharan ... Jonas A Nilsson

    Published 22 June 2020

    The study use small molecule inhibitors and a kinase-dead expressing mouse model to demonstrate that the kinase activity of Chk1 is essential for mouse embryos and cancer cells.

  • RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels
    Open Access
    RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

    Juliane S Müller, David T Burns, Helen Griffin, Graeme R Wells, Romance A Zendah, Benjamin Munro, Claudia Schneider, Rita Horvath

    Juliane S Müller ... Rita Horvath

    Published 11 June 2020

    The work highlights the link between dysfunction of the RNA exosome, ribosome biogenesis, p53-dependent signalling, and apoptosis. Pontocerebellar hypoplasia caused by mutations of the exosome subunits could be classified as a ribosomopathy.

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