The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita
Open accessAbstract
Dyskeratosis congenita (DC) and related syndromes are inherited, life-threatening bone marrow (BM) failure disorders, and approximately 40% of cases are currently uncharacterized at the genetic level. Here, using whole exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specific ribonuclease (PARN) in 3 families with individuals exhibiting severe DC. PARN is an extensively characterized exonuclease with deadenylation activity that controls mRNA stability in part and therefore regulates expression of a large number of genes. The DC-associated mutations identified affect key domains within the protein, and evaluation of patient cells revealed reduced deadenylation activity. This deadenylation deficiency caused an early DNA damage response in terms of nuclear p53 regulation, cell-cycle arrest, and reduced cell viability upon UV treatment. Individuals with biallelic PARN mutations and PARN-depleted cells exhibited reduced RNA levels for several key genes that are associated with telomere biology, specifically TERC, DKC1, RTEL1, and TERF1. Moreover, PARN-deficient cells also possessed critically short telomeres. Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC.
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Cites
Flow cytometry and FISH to measure the average length of telomeres (flow FISH)
Baerlocher, G. M., Vulto, I., de Jong, G., & Lansdorp, P. M. (2006) · Nature Protocols · doi:10.1038/nprot.2006.263 · Cited by 449
Poly(A) Tail Shortening by a Mammalian Poly(A)-specific 3′-Exoribonuclease
Körner, C. G., & Wahle, E. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.16.10448 · Cited by 230
The p53 pathway in hematopoiesis: lessons from mouse models, implications for humans
Pant, V., Quintás-Cardama, A., & Lozano, G. (2012) · Blood · doi:10.1182/blood-2012-05-356014 · Cited by 129
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RNA-binding proteins control gene expression and cell fate in the immune system
Turner, M., & Díaz-Muñoz, M. D. (2018) · Nature Immunology · doi:10.1038/s41590-017-0028-4 · Cited by 209
Regulation of long non-coding RNAs and genome dynamics by the RNA surveillance machinery
Nair, L., Chung, H., & Basu, U. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0209-0 · Cited by 203
Human Telomerase RNA Processing and Quality Control
Tseng, C.-K., Wang, H.-F., Burns, A. M., Schroeder, M. R., Gaspari, M., & Baumann, P. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.10.075 · Cited by 148
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Savage, S. A. (2018) · F1000Research · doi:10.12688/f1000research.14068.1 · Cited by 124
Metadata
- Authors
- Tummala, H., Walne, A., Collopy, L., Cardoso, S., de la Fuente, J., Lawson, S., Powell, J., Cooper, N., Foster, A., Mohammed, S., Plagnol, V., Vulliamy, T., & Dokal, I.
- Venue
- Journal of Clinical Investigation
- Published
- 2015-04-20
- Volume
- 125
- Issue
- 5
- Pages
- 2151-2160
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1998739058
- Cited by
- 198
- References
- 3
- FWCI
- 16.14
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Tummala, H., Walne, A., Collopy, L., Cardoso, S., de la Fuente, J., Lawson, S., Powell, J., Cooper, N., Foster, A., Mohammed, S., Plagnol, V., Vulliamy, T., & Dokal, I. (2015). Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. Journal of Clinical Investigation. https://doi.org/10.1172/jci78963
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