Supplementary Materials

Supplementary Material for:

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

Susan E. Stanley, Dustin L. Gable, Christa L. Wagner, Thomas M. Carlile, Vidya Sagar Hanumanthu, Joshua D. Podlevsky, Sara E. Khalil, Amy E. DeZern, Maria F. Rojas-Duran, Carolyn D. Applegate, Jonathan K. Alder, Erin M. Parry, Wendy V. Gilbert, Mary Armanios*

*Corresponding author. Email: marmani1{at}

Published 10 August 2016, Sci. Transl. Med. 8, 351ra107 (2016)
DOI: 10.1126/scitranslmed.aaf7837

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Characteristics of PF-emphysema probands cases studied.
  • Fig. S2. Detailed clinical history of short telomere syndrome features in NAF1 mutation carriers.
  • Fig. S3. Full-length NAF1 cDNA rescues TR levels in homozygous mutant HCT116 cells.
  • Fig. S4. Multispecies NAF1 alignment showing conserved motifs.
  • Fig. S5. Leptomycin B blocks nuclear export and TR levels after nuclear localization is restored for NAF1K319fs.
  • Fig. S6. Schema of mouse box H/ACA snoRNAs quantified showing the complementary guide sequence and the rRNA Ψ target site.
  • Table S1. Mouse rRNA Ψ sites mapped on the basis of homology and analyzed by Pseudo-seq (n = 107).
  • References (6272)

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