The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Correction of a Genetic Disease in Mouse via Use of CRISPR-Cas9
Open accessAbstract
The CRISPR-Cas9 system has been employed to generate mutant alleles in a range of different organisms. However, so far there have not been reports of use of this system for efficient correction of a genetic disease. Here we show that mice with a dominant mutation in Crygc gene that causes cataracts could be rescued by coinjection into zygotes of Cas9 mRNA and a single-guide RNA (sgRNA) targeting the mutant allele. Correction occurred via homology-directed repair (HDR) based on an exogenously supplied oligonucleotide or the endogenous WT allele, with only rare evidence of off-target modifications. The resulting mice were fertile and able to transmit the corrected allele to their progeny. Thus, our study provides proof of principle for use of the CRISPR-Cas9 system to correct genetic disease.
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In the citing paper
“Due to the low rate of HDR recombination [109]”
From CRISPR-Cas: Converting A Bacterial Defence Mechanism into A State-of-the-Art Genetic Manipulation Tool (2019) · cites this paper as [109]
In the citing paper
“Several groups have also demonstrated in vitro correction of genetic disease genes including CFTR (cystic fibrosis)9, Crygc (cataracts)10 and DMD (Duchenne muscular dystrophy)11 in organoids or mouse zygotes.”
From Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo (2016) · cites this paper as [10]
In the citing paper
“Furthermore, CRISPR/Cas9 system holds tremendous promise for gene therapy [46–51]. It can correct causal mutations in the original genome and rescue the disease phenotypes of monogenic disorders permanently, which currently represents the most translatable field in CRISPR/Cas9-mediated disease therapy.”
From Non-viral delivery systems for CRISPR/Cas9-based genome editing: challenges and opportunities (2018) · cites this paper as [47]
In the citing paper
“CRISPR-Cas9 genome editing has been applied to correct disease-causing mutations in mouse zygotes and human cell lines for cataract5 and cystic fibrosis6”
From Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype (2014) · cites this paper as [5]
In the citing paper
“In such a mouse model, germline-manipulation with CRISPR-Cas9 system was capable of correcting both the mutant gene and cataract phenotype in part of offsprings.”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
In the citing paper
“Interestingly, however, of the six offsprings undergoing NHEJ, two were also free of cataract thanks to coincidental frameshift restoration resulting from NHEJ-induced indel mutations, while the rest four remained cataract phenotype.30”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
In the citing paper
“These results highlighted the importance of HDR in reliable gene corrections.”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
In the citing paper
“Of the 22 live offsprings, 10 underwent culprit gene modifications (the editing efficiency is 45.45%) either by HDR (n=4) (figure 1C left) or by NHEJ (n=6) (figure 1C right).”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
In the citing paper
“However, as demonstrated in this study, zygote manipulation can only rescue part of the offsprings in an unpredictable manner.”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
In the citing paper
“As expected, all of the four offsprings undergoing HDR were free of cataract due to HDR-mediated gene corrections.”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
In the citing paper
“As shown in the study by Wu et al 30 among mice genetically edited by CRISPR-Cas9, all HDR-mediated editing corrected the causative gene defects and rescued disease phenotype while only a small part of NHEJ-mediated editing had the corrective effect.”
From CRISPR-Cas9: a new and promising player in gene therapy (2015) · cites this paper as [30]
Citations
Cites
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Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system
Jao, L.-E., Wente, S. R., & Chen, W. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1308335110 · Cited by 1,311
Engineering the Caenorhabditis elegans genome using Cas9-triggered homologous recombination
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Heritable genome editing in C. elegans via a CRISPR-Cas9 system
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Genome editing with RNA-guided Cas9 nuclease in Zebrafish embryos
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A 1-bp deletion in the γC-crystallin leads to dominant cataracts in mice
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Sorted by citations
The new frontier of genome engineering with CRISPR-Cas9
Doudna, J. A., & Charpentier, E. (2014) · Science · doi:10.1126/science.1258096 · Cited by 7,062
“A dominant mutation in the Crygc gene responsible for cataracts was successfully corrected in mice (103).”
Development and Applications of CRISPR-Cas9 for Genome Engineering
Hsu, P. D., Lander, E. S., & Zhang, F. (2014) · Cell · doi:10.1016/j.cell.2014.05.010 · Cited by 5,762
“, 2014), to engineer isogenic ES and iPS cell disease models with specific mutations introduced or corrected, respectively, or in vivo and ex vivo gene correction (Schwank et al., 2013; Wu et al., 2013).”
Ma, X., Zhang, Q., Zhu, Q., Liu, W., Chen, Y., Qiu, R., Wang, B., Yang, Z., Li, H., Lin, Y., et al. (2015) · Molecular Plant · doi:10.1016/j.molp.2015.04.007 · Cited by 2,369
“A previous report showed that CRISPR/Cas9-induced DSB in a mutated gene in mice could be corrected to wild-type through the HR mechanism, also termed homology-directed repair (HDR), with the endogenous wild-type allele as the template (Wu et al., 2013).”
BackgroundTherapeutic genome editing: prospects and challenges
Cox, D. B. T., Platt, R. J., & Zhang, F. (2015) · Nature Medicine · doi:10.1038/nm.3793 · Cited by 1,336
Delivering CRISPR: a review of the challenges and approaches
Lino, C. A., Harper, J. C., Carney, J. P., & Timlin, J. A. (2018) · Drug Delivery · doi:10.1080/10717544.2018.1474964 · Cited by 1,185
“, 2014), correction of a cataract-causing mutation in mice (Wu et al., 2013), and correction of a Duchenne muscular dystrophy (DMD)-causing mutation in mice (Long et al.”
Background
Metadata
- Authors
- Wu, Y., Liang, D., Wang, Y., Bai, M., Tang, W., Bao, S., Yan, Z., Li, D., & Li, J.
- Affiliations
- Chinese Academy of Sciences (CN)
- Corresponding author
- Li, Jinsong
- Venue
- Cell stem cell
- Publisher
- Elsevier BV
- Published
- 2013-12
- Volume
- 13
- Issue
- 6
- Pages
- 659-662
- ISSN
- 1875-9777 (ISSN-L)
- 1934-5909
- OpenAlex
- W2058792860
- Cited by
- 614
- References
- 20
- Citations by year
- 2026: 14 · 2025: 19 · 2024: 26 · 2023: 34 · 2022: 34 · 2021: 51 · 2020: 51 · 2019: 61 · 2018: 67 · 2017: 64 · 2016: 69 · 2015: 68 · 2014: 54 · 2013: 2
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell stem cell (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- CRISPR/Cas9, gene correction, cataract, dominant mutations, homology-directed repair, single guide RNA, zygote injection, off-target effects, germline transmission, mouse model
- MeSH terms
- Animals, Base Sequence, Cataract, Disease Models, Animal, Molecular Sequence Data, RNA, Messenger, Genetic Therapy, gamma-Crystallins, Mice, Clustered Regularly Interspaced Short Palindromic Repeats, CRISPR-Associated Proteins
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