The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Translating dosage compensation to trisomy 21
Open accessAbstract
Down’s syndrome is a common disorder with enormous medical and social costs, caused by trisomy for chromosome 21. We tested the concept that gene imbalance across an extra chromosome can be de facto corrected by manipulating a single gene, XIST (the X-inactivation gene). Using genome editing with zinc finger nucleases, we inserted a large, inducible XIST transgene into the DYRK1A locus on chromosome 21, in Down’s syndrome pluripotent stem cells. The XIST non-coding RNA coats chromosome 21 and triggers stable heterochromatin modifications, chromosome-wide transcriptional silencing and DNA methylation to form a ‘chromosome 21 Barr body’. This provides a model to study human chromosome inactivation and creates a system to investigate genomic expression changes and cellular pathologies of trisomy 21, free from genetic and epigenetic noise. Notably, deficits in proliferation and neural rosette formation are rapidly reversed upon silencing one chromosome 21. Successful trisomy silencing in vitro also surmounts the major first step towards potential development of ‘chromosome therapy’.
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Cites
Disease-Specific Induced Pluripotent Stem Cells.
Park, I.-H., Arora, N., Huo, H., Maherali, N., Ahfeldt, T., Shimamura, A., Lensch, M. W., Cowan, C., Hochedlinger, K., & Daley, G. Q. (2008) · Cell · doi:10.1016/j.cell.2008.07.041 · Cited by 2,196
An improved zinc-finger nuclease architecture for highly specific genome editing
Miller, J. C., Holmes, M. C., Wang, J., Guschin, D. Y., Lee, Y.-L., Rupniewski, I., Beausejour, C. M., Waite, A. J., Wang, N. S., Kim, K. A., et al. (2007) · Nature Biotechnology · doi:10.1038/nbt1319 · Cited by 1,051
Self-citationAït Yahya-Graison, E., Aubert, J., Dauphinot, L., Rivals, I., Prieur, M., Golfier, G., Rossier, J., Personnaz, L., Créau, N., Bléhaut, H., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/520000 · Cited by 338
Trisomy 21 and early brain development
Haydar, T. F., & Reeves, R. H. (2012) · Trends in Neurosciences · doi:10.1016/j.tins.2011.11.001 · Cited by 200
Guidi, S., Ciani, E., Bonasoni, P., Santini, D., & Bartesaghi, R. (2011) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00459.x · Cited by 165
Cited by
Gene regulation by long non-coding RNAs and its biological functions
Statello, L., Guo, C.-J., Chen, L.-L., & Huarte, M. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-00315-9 · Cited by 4,991
A guide to genome engineering with programmable nucleases
Kim, H., & Kim, J.-S. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3686 · Cited by 1,163
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
Wiseman, F. K., Al-Janabi, T., Hardy, J., Karmiloff-Smith, A., Nizetic, D., Tybulewicz, V. L. J., Fisher, E. M. C., & Strydom, A. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3983 · Cited by 562
Induced Pluripotent Stem Cells Meet Genome Editing
Hockemeyer, D., & Jaenisch, R. (2016) · Cell Stem Cell · doi:10.1016/j.stem.2016.04.013 · Cited by 499
“Using this approach Jiang et al. showed that ectopic expression of Xist was sufficient to transcriptionally suppress the targeted third copy of chromosome 21 and to reverse the cellular disease phenotypes in in vitro differentiated cells (Jiang et al., 2013).”
Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., Lauth, B., et al. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00053 · Cited by 283
Metadata
- Authors
- Jiang, J., Jing, Y., Cost, G. J., Chiang, J.-C., Kolpa, H. J., Cotton, A. M., Carone, D. M., Carone, B. R., Shivak, D. A., Guschin, D. Y., Pearl, J. R., Rebar, E. J., Byron, M., Gregory, P. D., Brown, C. J., Urnov, F. D., Hall, L. L., & Lawrence, J. B.
- Venue
- Nature
- Published
- 2013-07-17
- Volume
- 500
- Issue
- 7462
- Pages
- 296-300
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2147061679
- Cited by
- 335
- References
- 5
- FWCI
- 44.75
- Type
- journal article
- Language
- en
- Open access
- green
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- Jiang, J., Jing, Y., Cost, G. J., Chiang, J.-C., Kolpa, H. J., Cotton, A. M., Carone, D. M., Carone, B. R., Shivak, D. A., Guschin, D. Y., Pearl, J. R., Rebar, E. J., Byron, M., Gregory, P. D., Brown, C. J., Urnov, F. D., Hall, L. L., & Lawrence, J. B. (2013). Translating dosage compensation to trisomy 21. Nature. https://doi.org/10.1038/nature12394
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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