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Corrigendum Free access | 10.1172/JCI82903

mRNA deadenylation and telomere disease

Philip J. Mason and Monica Bessler

Find articles by Mason, P. in: JCI | PubMed | Google Scholar

Find articles by Bessler, M. in: JCI | PubMed | Google Scholar

Published August 3, 2015 - More info

Published in Volume 125, Issue 8 on August 3, 2015
J Clin Invest. 2015;125(8):3304–3304. https://doi.org/10.1172/JCI82903.
Copyright © 2015, American Society for Clinical Investigation
Published August 3, 2015 - Version history
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mRNA deadenylation and telomere disease
Philip J. Mason, Monica Bessler
Philip J. Mason, Monica Bessler
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mRNA deadenylation and telomere disease

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Abstract

Dyskeratosis congenita (DC) is an inherited BM failure disorder that is associated with mutations in genes involved with telomere function and maintenance; however, the genetic cause of many instances of DC remains uncharacterized. In this issue of the JCI, Tummala and colleagues identify mutations in the gene encoding the poly(A)-specific ribonuclease (PARN) in individuals with a severe form of DC in three different families. PARN deficiency resulted in decreased expression of genes required for telomere maintenance and an aberrant DNA damage response, including increased levels of p53. Together, the results of this study support PARN as a DC-associated gene and suggest a potential link between p53 and telomere shortening.

Authors

Philip J. Mason, Monica Bessler

×

Original citation: J Clin Invest. 2015;125(5):1796–1798. doi:10.1172/JCI81506.

Citation for this corrigendum: J Clin Invest. 2015;125(8):3304. doi:10.1172/JCI82903.

The missense variant given was incorrect. The correct sentence is below.

In one family, a brother and a sister were both homozygous for a missense mutation that results in an A to V substitution at amino acid 383 (PARNA383V), which is in a conserved domain of the protein that is essential for nuclease activity.

The authors regret the error.

Footnotes

See the related article beginning on page 1796.

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  • Version 1 (August 3, 2015): No description

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