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Comment
. 2017 Jul 1;196(1):7-9.
doi: 10.1164/rccm.201701-0194ED.

Whole-Exome Sequencing Insights into Adult Pulmonary Fibrosis. Repeating the Telomere Theme

Christine Kim Garcia  1   2
Affiliations
Comment

Whole-Exome Sequencing Insights into Adult Pulmonary Fibrosis. Repeating the Telomere Theme

Christine Kim Garcia. Am J Respir Crit Care Med. .
No abstract available

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Figures

Figure 1.
Figure 1.
Ultrarare variants identified by whole-exome sequencing of patients with sporadic pulmonary fibrosis converge on three genes (TERT, RTEL1, and PARN) in the telomerase pathway. Human telomeres, capping the ends of chromosomes, consist of several thousand bases of tandemly repeated 5′-TTAGGG-3′ sequences. Telomeres terminate with a T-loop structure and can fold into G-quadruplex structures. The regulator of telomere length 1 (RTEL1) is a DNA helicase that disassembles a variety of DNA secondary structures, including G-quadruplex structures and T-loops, to maintain telomere integrity. Telomerase, a ribonucleoprotein that contains both an intrinsic RNA (hTR, TERC) and a protein catalytic subunit (TERT), adds single-stranded TTAGGG repeats to the end of the chromosome and leads to telomere elongation. Polyadenylation-specific RNase (PARN) removes oligo(A) tails from the 3′ end of TERC, which serves as the template for the telomere repeat. Ultrarare qualifying variants reported in this issue of the Journal (6) are predicted to be damaging and are likely associated with short telomeres.
See this image and copyright information in PMC

Comment on

  • An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
    Petrovski S, Todd JL, Durheim MT, Wang Q, Chien JW, Kelly FL, Frankel C, Mebane CM, Ren Z, Bridgers J, Urban TJ, Malone CD, Finlen Copeland A, Brinkley C, Allen AS, O'Riordan T, McHutchison JG, Palmer SM, Goldstein DB. Petrovski S, et al. Am J Respir Crit Care Med. 2017 Jul 1;196(1):82-93. doi: 10.1164/rccm.201610-2088OC. Am J Respir Crit Care Med. 2017. PMID: 28099038 Free PMC article.

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