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Proceedings of the National Academy of Sciences of the United States of America, volume 104, issue 18, pages 7552-7557

Adult-onset pulmonary fibrosis caused by mutations in telomerase

Tsakiri Kalliopi D 1
Cronkhite Jennifer T. 1
Kuan Phillip J 1
Chao Xing 1, 2
Raghu Ganesh 3
Weissler Jonathan C. 4
Rosenblatt Randall L. 4
Shay Jerry W. 5
Garcia Christine Kim 1, 4
1
 
*McDermott Center for Human Growth and Development,
2
 
Center for Clinical Sciences,
3
 
Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine, University of Washington Medical Center, 1959 NE Pacific, Seattle, WA 98195-6522
4
 
Department of Internal Medicine, Division of Pulmonary and Critical Care Medicine,
5
 
Department of Cell Biology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390; and
Publication typeJournal Article
Publication date2007-04-25
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor11.1
ISSN00278424, 10916490
Multidisciplinary
Abstract
Idiopathic pulmonary fibrosis (IPF) is an adult-onset, lethal, scarring lung disease of unknown etiology. Some individuals with IPF have a familial disorder that segregates as a dominant trait with incomplete penetrance. Here we used linkage to map the disease gene in two families to chromosome 5. Sequencing a candidate gene within the interval, TERT, revealed a missense mutation and a frameshift mutation that cosegregated with pulmonary disease in the two families. TERT encodes telomerase reverse transcriptase, which together with the RNA component of telomerase (TERC), is required to maintain telomere integrity. Sequencing the probands of 44 additional unrelated families and 44 sporadic cases of interstitial lung disease revealed five other mutations in TERT. A heterozygous mutation in TERC also was found in one family. Heterozygous carriers of all of the mutations in TERT or TERC had shorter telomeres than age-matched family members without the mutations. Thus, mutations in TERT or TERC that result in telomere shortening over time confer a dramatic increase in susceptibility to adult-onset IPF.

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GOST Copy
Tsakiri K. D. et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase // Proceedings of the National Academy of Sciences of the United States of America. 2007. Vol. 104. No. 18. pp. 7552-7557.
GOST all authors (up to 50) Copy
Tsakiri K. D., Cronkhite J. T., Kuan P. J., Chao X., Raghu G., Weissler J. C., Rosenblatt R. L., Shay J. W., Garcia C. K. Adult-onset pulmonary fibrosis caused by mutations in telomerase // Proceedings of the National Academy of Sciences of the United States of America. 2007. Vol. 104. No. 18. pp. 7552-7557.
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.1073/pnas.0701009104
UR - https://doi.org/10.1073%2Fpnas.0701009104
TI - Adult-onset pulmonary fibrosis caused by mutations in telomerase
T2 - Proceedings of the National Academy of Sciences of the United States of America
AU - Tsakiri, Kalliopi D
AU - Cronkhite, Jennifer T.
AU - Kuan, Phillip J
AU - Chao, Xing
AU - Raghu, Ganesh
AU - Weissler, Jonathan C.
AU - Rosenblatt, Randall L.
AU - Shay, Jerry W.
AU - Garcia, Christine Kim
PY - 2007
DA - 2007/04/25 00:00:00
PB - Proceedings of the National Academy of Sciences (PNAS)
SP - 7552-7557
IS - 18
VL - 104
PMID - 17460043
SN - 0027-8424
SN - 1091-6490
ER -
BibTex |
Cite this
BibTex Copy
@article{2007_Tsakiri
author = {Kalliopi D Tsakiri and Jennifer T. Cronkhite and Phillip J Kuan and Xing Chao and Ganesh Raghu and Jonathan C. Weissler and Randall L. Rosenblatt and Jerry W. Shay and Christine Kim Garcia},
title = {Adult-onset pulmonary fibrosis caused by mutations in telomerase},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
year = {2007},
volume = {104},
publisher = {Proceedings of the National Academy of Sciences (PNAS)},
month = {apr},
url = {https://doi.org/10.1073%2Fpnas.0701009104},
number = {18},
pages = {7552--7557},
doi = {10.1073/pnas.0701009104}
}
MLA
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MLA Copy
Tsakiri, Kalliopi D., et al. “Adult-onset pulmonary fibrosis caused by mutations in telomerase.” Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 18, Apr. 2007, pp. 7552-7557. https://doi.org/10.1073%2Fpnas.0701009104.
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