Cited by 561CRISPR and Genetic EngineeringVirus-based gene therapy researchHematopoietic Stem Cell Transplantation

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Targeted genome editing in human repopulating haematopoietic stem cells

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Genovese, Pietro, Schiroli, Giulia, Escobar, Giulia, Di Tomaso, Tiziano, Firrito, Claudia, Calabria, Andrea, Moi, Davide, Mazzieri, Roberta, Bonini, Chiara, Holmes, Michael C., Gregory, Philip D., van der Burg, Mirjam, Gentner, Bernhard, Montini, Eugenio, Lombardo, Angelo, Naldini, Luigi·2014·Nature

DOI 10.1038/nature13420PMC PMC4082311

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Abstract

Targeted genome editing by artificial nucleases has brought the goal of site-specific transgene integration and gene correction within the reach of gene therapy. However, its application to long-term repopulating haematopoietic stem cells (HSCs) has remained elusive. Here we show that poor permissiveness to gene transfer and limited proficiency of the homology-directed DNA repair pathway constrain gene targeting in human HSCs. By tailoring delivery platforms and culture conditions we overcame these barriers and provide stringent evidence of targeted integration in human HSCs by long-term multilineage repopulation of transplanted mice. We demonstrate the therapeutic potential of our strategy by targeting a corrective complementary DNA into the IL2RG gene of HSCs from healthy donors and a subject with X-linked severe combined immunodeficiency (SCID-X1). Gene-edited HSCs sustained normal haematopoiesis and gave rise to functional lymphoid cells that possess a selective growth advantage over those carrying disruptive IL2RG mutations. These results open up new avenues for treating SCID-X1 and other diseases.

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Authors: Genovese, P., Schiroli, G., Escobar, G., Di Tomaso, T., Firrito, C., Calabria, A., Moi, D., Mazzieri, R., Bonini, C., Holmes, M. C., Gregory, P. D., van der Burg, M., Gentner, B., Montini, E., Lombardo, A., & Naldini, L.
Affiliations: The San Raffaele Telethon Institute for Gene Therapy (IT)
Vita-Salute San Raffaele University (IT)
IRCCS Ospedale San Raffaele (IT)
Sangamo BioSciences (United States) (US)
Erasmus MC (NL)
Corresponding author: Naldini, Luigi
ORCID: Genovese, Pietro
Schiroli, Giulia
Escobar, Giulia
Firrito, Claudia
Calabria, Andrea
Moi, Davide
Mazzieri, Roberta
Bonini, Chiara
Holmes, Michael C.
Gregory, Philip D.
van der Burg, Mirjam
Gentner, Bernhard
Montini, Eugenio
Lombardo, Angelo
Naldini, Luigi
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2014-05-28
Volume: 510
Issue: 7504
Pages: 235-240
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature13420
PMC: PMC4082311
OpenAlex: W1995497292
Cited by: 555
References: 44
Citations by year: 2026: 7 · 2025: 20 · 2024: 23 · 2023: 32 · 2022: 42 · 2021: 51 · 2020: 43 · 2019: 50 · 2018: 57 · 2017: 57 · 2016: 71 · 2015: 77 · 2014: 24
FWCI: 28.82
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
PubMed Central (acceptedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
RePEc: Research Papers in Economics (submittedVersion)
Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
Keywords: targeted genome editing, hematopoietic stem cells, homology-directed repair, gene targeting, IL2RG, X-linked severe combined immunodeficiency, gene therapy, transgene integration
MeSH terms: Animals, Endonucleases, Fetal Blood, Hematopoiesis, Hematopoietic Stem Cells, Humans, Male, Mutation, Genome, Human, DNA, Complementary, Hematopoietic Stem Cell Transplantation, Gene Targeting, Antigens, CD34, Mice, Targeted Gene Repair, Interleukin Receptor Common gamma Subunit, X-Linked Combined Immunodeficiency Diseases

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