The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita
Open accessAbstract
Dyskeratosis congenita (DC) patients suffer a progressive and ultimately fatal loss of hematopoietic renewal correlating with critically short telomeres. The predominant X-linked form of DC results from substitutions in dyskerin, a protein required both for ribosomal RNA (rRNA) pseudouridine modification and for cellular accumulation of telomerase RNA (TER). Accordingly, alternative models have posited that the exhaustion of cellular renewal in X-linked DC arises as a primary consequence of ribosome deficiency or telomerase deficiency. Here we test, for the first time, whether X-linked DC patient cells are compromised for telomerase function at telomeres. We show that telomerase activation in family-matched control cells allows telomere elongation and telomere length maintenance, while telomerase activation in X-linked DC patient cells fails to prevent telomere erosion with proliferation. Furthermore, we demonstrate by phenotypic rescue that telomere defects in X-linked DC patient cells arise solely from reduced accumulation of TER. We also show that X-linked DC patient cells averted from premature senescence support normal levels of rRNA pseudouridine modification and normal kinetics of rRNA precursor processing, in contrast with phenotypes reported for a proposed mouse model of the human disease. These findings support the significance of telomerase deficiency in the pathology of X-linked DC.
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Specific Association of Human Telomerase Activity with Immortal Cells and Cancer
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BackgroundExtension of Life-Span by Introduction of Telomerase into Normal Human Cells
Bodnar, A. G., Ouellette, M., Frolkis, M., Holt, S. E., Chiu, C.-P., Morin, G. B., Harley, C. B., Shay, J. W., Lichtsteiner, S., & Wright, W. E. (1998) · Science · doi:10.1126/science.279.5349.349 · Cited by 4,975
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature · doi:10.1038/35096585 · Cited by 960
Secondary Structure of Vertebrate Telomerase RNA
Chen, J.-L., Blasco, M. A., & Greider, C. W. (2000) · Cell · doi:10.1016/s0092-8674(00)80687-x · Cited by 605
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Dyskeratosis congenita in all its forms
Dokal, I. (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.02109.x · Cited by 575
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Severe growth defect in mouse cells lacking the telomerase RNA component
Niida, H., Matsumoto, T., Satoh, H., Shiwa, M., Tokutake, Y., Furuichi, Y., & Shinkai, Y. (1998) · Nature Genetics · doi:10.1038/580 · Cited by 156 · cited 2×
“…20:2848–2858 © 2006 by Cold Spring Harbor Laboratory Press ISSN 0890-9369/06; www.genesdev.org nucleolar RNAs (snoRNAs) hybridize to ∼100 sites on ribosomal RNAs (rRNAs), and other H/ACA-motif RNAs hybridize to some sites on spliceosomal small nuclear RNAs (Ofengand et al. 2001; Kiss et al. 2004).”
Background
Cited by
RNA regulons: coordination of post-transcriptional events
Keene, J. D. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2111 · Cited by 1,321
Aubert, G., & Lansdorp, P. M. (2008) · Physiological Reviews · doi:10.1152/physrev.00026.2007 · Cited by 1,188
Nucleolus, Ribosomes, and Cancer
Montanaro, L., Treré, D., & Derenzini, M. (2008) · The American Journal of Pathology · doi:10.2353/ajpath.2008.070752 · Cited by 451
Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A., & Dokal, I. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0800042105 · Cited by 334
Syndromes of Telomere Shortening
Armanios, M. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082908-150046 · Cited by 317
Metadata
- Authors
- Wong, J. M. Y., & Collins, K.
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2006-10-02
- Volume
- 20
- Issue
- 20
- Pages
- 2848-2858
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2160848134
- Cited by
- 202
- References
- 11
- Type
- posted content
- Language
- en
- Open access
- diamond
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