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Editorial
. 2015 Mar 15;191(6):608-10.
doi: 10.1164/rccm.201501-0119ED.

What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis

Susan E Stanley  1 , Imre Noth, Mary Armanios
Affiliations
Editorial

What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis

Susan E Stanley et al. Am J Respir Crit Care Med. .
No abstract available

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Figures

Figure 1.
Figure 1.
(A) Schematic depicting telomere genes found to be mutated in pulmonary fibrosis and their role at the telomere. Dyskerin is encoded by DKC1, and TIN2 is encoded by TINF2. (B) Map of regulator of telomere length 1 (RTEL1) mutations and variants relative to predicted conserved domains. The 1,300-amino-acid isoform is the longest curated isoform in the National Center for Biotechnology Information Reference Sequences (RefSeq). The variants identified in families with pulmonary fibrosis (heterozygous) are illustrated above, and those in pediatric telomere syndromes are below (biallelic). Black circles indicate changes predicted to disrupt protein stability (nonsense, splice-altering, or frameshift variants), gray circles are predicted to preserve protein stability (missense variants or short, in-frame deletions), and white circles are nonsegregating missense variants. Splice-altering and frameshift variants are positioned at the first amino acid predicted to be altered. C4C4 RING = C4C4 RING-finger motif; DEAD_2 = a conserved region within RAD3-like DNA-binding helicases; Helicase_C_2 = helicase C-terminal domain; HHD = harmonin homology domain; PIP = PCNA-interacting peptide motif; TERT = telomerase reverse transcriptase catalytic subunit; TIN2 = TRF1-interacting nuclear factor 1; TR = telomerase RNA.
See this image and copyright information in PMC

Comment on

  • Rare variants in RTEL1 are associated with familial interstitial pneumonia.
    Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS. Cogan JD, et al. Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC. Am J Respir Crit Care Med. 2015. PMID: 25607374 Free PMC article.

References

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