Introduction of single base substitutions at homologous chromosomal sequences by adeno‐associated virus vectors
Open accessAbstract
Adeno-associated virus (AAV) vectors can modify homologous chromosomal sequences at high rates. This gene targeting transduction pathway is distinct from the integrating and episomal pathways used in gene addition approaches. In previous studies, AAV vectors were used to introduce small insertion and deletion mutations at homologous chromosomal loci. Here we show that AAV-mediated gene targeting can also be used to introduce all possible types of single base substitution mutations at the endogenous single-copy hypoxanthine phosphoribosyl transferase locus. Southern blot and sequence analysis showed that the point mutations were introduced with high fidelity. We also show that AAV vectors can repair chromosomal alkaline phosphatase genes containing point mutations. Our results suggest that AAV vectors can be used to introduce single base substitutions at high frequencies in normal human cells, including the correction of point mutations responsible for genetic diseases.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Numerous in vitro studies have shown AAV capable of correcting various types of mutations (insertions, deletions, substitutions) by vector-mediated homologous recombination.
“Numerous in vitro studies have shown AAV capable of correcting various types of mutations (insertions, deletions, substitutions) by vector-mediated homologous recombination.16,17”
From Adeno‐associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo†‡ (2010) · cites this paper as [16]
Cites
Rapid and efficient site-specific mutagenesis without phenotypic selection.
Kunkel, T. A. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.488 · Cited by 7,309 · see citing works
[19] Rapid and efficient site-specific mutagenesis without phenotypic selection
Kunkel, T. A., Roberts, J. D., & Zakour, R. A. (1987) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(87)54085-x · Cited by 5,341 · see citing works
Zolotukhin, S., Byrne, B. J., Mason, E. G., Zolotukhin, I., Potter, M., Chesnut, K. A., Summerford, C., Samulski, R. J., & Muzyczka, N. (1999) · Gene Therapy · doi:10.1038/sj.gt.3300938 · Cited by 1,317 · see citing works
Analysis of Mutation in Human Cells by Using an Epstein-Barr Virus Shuttle System
DuBridge, R. B., Tang, P., Hsia, H. C., Leong-Morgenthaler, P.-M., Miller, J. H., & Calos, M. P. (1987) · Molecular and Cellular Biology · doi:10.1128/mcb.7.1.379 · Cited by 1,134 · see citing works
Construction and properties of retrovirus packaging cells based on gibbon ape leukemia virus
Miller, A. D., Garcia, J. V., von Suhr, N., Lynch, C. M., Wilson, C. A., & Eiden, M. (1991) · Journal of Virology · doi:10.1128/jvi.65.5.2220-2224.1991 · Cited by 627 · see citing works
Holmes, J., Clark, S., & Modrich, P. L. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.15.5837 · Cited by 409 · see citing works
Miller, A. D., Edwards, R. H., & Miller, A. D. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.1.78 · Cited by 380 · see citing works
Gibbs, R. A., Nguyen, P. N., Edwards, A., et al. (1990) · Genomics · doi:10.1016/0888-7543(90)90545-6 · Cited by 328 · see citing works
Human gene targeting by viral vectors
Russell, D. W., & Hirata, R. K. (1998) · Nature Genetics · doi:10.1038/ng0498-325 · Cited by 316 · see citing works
Self-citationFields-Berry, S., Halliday, A. L., & Cepko, C. L. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.2.693 · Cited by 259 · see citing works
Wiebauer, K., & Jiricny, J. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.15.5842 · Cited by 254 · see citing works
Brown, T. C., & Jiricny, J. (1988) · Cell · doi:10.1016/s0092-8674(88)80015-1 · Cited by 230 · see citing works
Goldfarb, P. S. (1992) · FEBS Letters · doi:10.1016/0014-5793(92)80143-5 · Cited by 229 · see citing works
Fine Structure of the Human Hypoxanthine Phosphoribosyltransferase Gene
Patel, P. I., Framson, P. E., Caskey, C. T., & Chinault, A. C. (1986) · Molecular and Cellular Biology · doi:10.1128/mcb.6.2.393 · Cited by 208 · see citing works
Rose, J. A., Berns, K. I., Hoggan, M. D., & Koczot, F. J. (1969) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.64.3.863 · Cited by 179 · see citing works
Pai, G. S., Sprenkle, J. A., T, T., et al. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.5.2810 · Cited by 157 · see citing works
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
Steingrimsdottir, H., Rowley, G. T., Dorado, G., et al. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.6.1201 · Cited by 143 · see citing works
Design and Packaging of Adeno-Associated Virus Gene Targeting Vectors
Hirata, R. K., & Russell, D. W. (2000) · Journal of Virology · doi:10.1128/jvi.74.10.4612-4620.2000 · Cited by 133 · see citing works
Self-citationSequence requirements for binding of Rep68 to the adeno-associated virus terminal repeats
Ryan, J. H., Zolotukhin, S., & Muzyczka, N. (1996) · Journal of Virology · doi:10.1128/jvi.70.3.1542-1553.1996 · Cited by 119 · see citing works
Inoue, N., & Russell, D. (1998) · Journal of Virology · doi:10.1128/jvi.72.9.7024-7031.1998 · Cited by 107 · see citing works
Self-citationSpectrum of X-ray-induced mutations in the human hprt gene
Nelson, S. L., Giver, C. R., & Grosovsky, A. J. (1994) · Carcinogenesis · doi:10.1093/carcin/15.3.495 · Cited by 84 · see citing works
Inoue, N., Hirata, R. K., & Russell, D. W. (1999) · Journal of Virology · doi:10.1128/jvi.73.9.7376-7380.1999 · Cited by 72 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Adeno‐associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo†‡
Paulk, N. K., Wursthorn, K., Wang, Z., Finegold, M. J., Kay, M. A., & Grompe, M. (2010) · Hepatology · doi:10.1002/hep.23481 · Cited by 135 · see citing works
Gene targeting with viral vectors
Hendrie, P. C., & Russell, D. W. (2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.04.006 · Cited by 126 · see citing works
Self-citation
- Authors
- Inoue, N., Dong, R., Hirata, R. K., & Russell, D. W.
- Affiliations
- University of Washington (US)
- Corresponding author
- Inoue, Naoki
- Russell, David W.
- ORCID
- Inoue, Naoki
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2001-04
- Volume
- 3
- Issue
- 4
- Pages
- 526-530
- ISSN
- 1525-0016 (ISSN-L)
- OpenAlex
- W2095194956
- Cited by
- 62
- References
- 22
- Citations by year
- 2022: 1 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 2 · 2012: 2
- FWCI
- 4.74
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Therapy (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- March of Dimes Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- adeno-associated virus vectors, homologous recombination, gene targeting, single base substitution, point mutations, hypoxanthine phosphoribosyltransferase, alkaline phosphatase, gene therapy
- MeSH terms
- Dependovirus, Alkaline Phosphatase, Cells, Cultured, Chromosomes, Fibroblasts, Genetic Vectors, Humans, Male, Models, Genetic, Mutation, Plasmids, Retroviridae, RNA Splicing, Blotting, Southern, Genetic Therapy, Gene Deletion, Point Mutation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
