دورية أكاديمية
Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome.
| العنوان: | Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome. |
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| المؤلفون: | Kuo CY; Division of Allergy & Immunology, Department of Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: ckuo@mednet.ucla.edu., Long JD; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Campo-Fernandez B; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., de Oliveira S; Division of Hematology & Oncology, Department of Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA., Cooper AR; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Romero Z; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Hoban MD; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Joglekar AV; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lill GR; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Kaufman ML; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Fitz-Gibbon S; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA 90095, USA., Wang X; Department of General Internal Medicine and Health Services Research, University of California, Los Angeles, Los Angeles, CA 90095, USA., Hollis RP; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Kohn DB; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA; Division of Hematology & Oncology, Department of Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA. |
| المصدر: | Cell reports [Cell Rep] 2018 May 29; Vol. 23 (9), pp. 2606-2616. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Cambridge, MA] : Cell Press, c 2012- |
| مواضيع طبية MeSH: | Gene Editing*, Genetic Diseases, X-Linked/*genetics , Hematopoietic Stem Cells/*metabolism , Hyper-IgM Immunodeficiency Syndrome/*genetics, Animals ; Antigens, CD34/metabolism ; Base Sequence ; CD40 Ligand/metabolism ; CRISPR-Associated Protein 9/metabolism ; CRISPR-Cas Systems/genetics ; Cell Differentiation ; Cell Line ; Colony-Forming Units Assay ; DNA Repair ; DNA, Complementary/genetics ; Humans ; Mice ; T-Lymphocytes/metabolism ; Transcription Activator-Like Effector Nucleases/metabolism |
| مستخلص: | X-linked hyper-immunoglobulin M (hyper-IgM) syndrome (XHIM) is a primary immunodeficiency due to mutations in CD40 ligand that affect immunoglobulin class-switch recombination and somatic hypermutation. The disease is amenable to gene therapy using retroviral vectors, but dysregulated gene expression results in abnormal lymphoproliferation in mouse models, highlighting the need for alternative strategies. Here, we demonstrate the ability of both the transcription activator-like effector nuclease (TALEN) and clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9) platforms to efficiently drive integration of a normal copy of the CD40L cDNA delivered by Adeno-Associated Virus. Site-specific insertion of the donor sequence downstream of the endogenous CD40L promoter maintained physiologic expression of CD40L while overriding all reported downstream mutations. High levels of gene modification were achieved in primary human hematopoietic stem cells (HSCs), as well as in cell lines and XHIM-patient-derived T cells. Notably, gene-corrected HSCs engrafted in immunodeficient mice at clinically relevant frequencies. These studies provide the foundation for a permanent curative therapy in XHIM. (Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved.) |
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| معلومات مُعتمدة: | K23 CA222659 United States CA NCI NIH HHS; U54 AI082973 United States AI NIAID NIH HHS; T32 GM007185 United States GM NIGMS NIH HHS; K12 HD034610 United States HD NICHD NIH HHS; T32 AI060567 United States AI NIAID NIH HHS |
| فهرسة مساهمة: | Keywords: CD40 ligand; CRISPR/Cas9; TALEN; X-linked hyper-IgM syndrome; gene editing; gene therapy; hematopoietic stem cell; primary immunodeficiency |
| المشرفين على المادة: | 0 (Antigens, CD34) 0 (DNA, Complementary) 147205-72-9 (CD40 Ligand) EC 3.1.- (CRISPR-Associated Protein 9) EC 3.1.- (Transcription Activator-Like Effector Nucleases) |
| تواريخ الأحداث: | Date Created: 20180531 Date Completed: 20191105 Latest Revision: 20210109 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC6181643 |
| DOI: | 10.1016/j.celrep.2018.04.103 |
| PMID: | 29847792 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2211-1247 |
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| DOI: | 10.1016/j.celrep.2018.04.103 |