Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

European Respiratory Journal

Volumn 46, Issue 2, 2015, Pages 474-485

  Kannengiesser, Caroline ^a,b   Borie, Raphael ^a   Ménard, Christelle ^a   Réocreux, Marion ^a   Nitschké, Patrick ^b,c   Gazal, Steven ^b,d,e   Mal, Hervé ^a   Taillé, Camille ^a   Cadranel, Jacques ^f,g   Nunes, Hilario ^h,i   Valeyre, Dominique ^h,i   Cordier, Jean François ^j,k   Callebaut, Isabelle ^l   Boileau, Catherine ^a,b   Cottin, Vincent ^j,k   Grandchamp, Bernard ^a,b   Revy, Patrick ^c,m   Crestani, Bruno ^a,b  

^a BICHAT HOSPITAL   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c IMAGINE INSTITUTE   (France)

^d UNIVERSITÉ PARIS DIDEROT   (France)

^e Plateforme de Génétique Constitutionnelle Nord PfGC Nord   (France)

^f HÔPITAL TENON   (France)

^g SORBONNE UNIVERSITÉ   (France)

^h AVICENNE HOSPITAL   (France)

ⁱ UNIVERSITÉ PARIS 13   (France)

^j UNIVERSITÉ LYON 1   (France)

^k LOUIS PRADEL HOSPITAL   (France)

^l UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

^m INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; AZATHIOPRINE; BOSENTAN; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN; DNA HELICASE; GENOMIC DNA; MYCOPHENOLATE MOFETIL; PLACEBO; REGULATOR OF TELOMERE ELONGATION HELICASE 1; STEROID; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE RNA COMPONENT; UNCLASSIFIED DRUG; RTEL1 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL TRIAL (TOPIC); COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DEATH; DNA REPAIR; DNA REPLICATION; DRUG TOLERABILITY; DRUG WITHDRAWAL; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME STABILITY; ENZYME STRUCTURE; FAMILIAL DISEASE; FEMALE; FIBROSING ALVEOLITIS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC VARIABILITY; GENOMIC INSTABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; INTERSTITIAL PNEUMONIA; LUNG ADENOCARCINOMA; LUNG EMPHYSEMA; LUNG FIBROSIS; LUNG GRAFT REJECTION; LUNG TRANSPLANTATION; MALE; MIDDLE AGED; MOLECULAR MODEL; NEUTROPENIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; RHEUMATOID ARTHRITIS; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; WHOLE EXOME SEQUENCING; GENETICS; MUTATION;

ADULT; DNA HELICASES; FEMALE; HETEROZYGOTE; HUMANS; IDIOPATHIC PULMONARY FIBROSIS; MALE; MIDDLE AGED; MUTATION; TELOMERASE; TELOMERE SHORTENING;

EID: 84938889019     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00040115     Document Type: Article

References (58)

1. Nathan SD, Shlobin OA, Weir N, et al. Long-term course and prognosis of idiopathic pulmonary fibrosis in the new millennium. Chest 2011; 140: 221-229.
2. Travis WD, Costabel U, Hansell DM, et al. An official American Thoracic Society/European Respiratory Society statement: update of the international multidisciplinary classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med 2013; 188: 733-748.
3. Spagnolo P, Grunewald J, du Bois RM. Genetic determinants of pulmonary fibrosis: evolving concepts. Lancet Respir Med 2014; 2: 416-428.
4. Kropski JA, Blackwell TS, Loyd JE. The genetic basis of idiopathic pulmonary fibrosis. Eur Respir J 2015; 45: 1717-1727.
5. Wang Y, Kuan PJ, Xing C, et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet 2009; 84: 52-59.
6. Nathan N, Taam RA, Epaud R, et al. A national internet-linked based database for pediatric interstitial lung diseases: the French network. Orphanet J Rare Dis 2012; 7: 40.
7. Tsakiri KD, Cronkhite JT, Kuan PJ, et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007; 104: 7552-7557.
8. Armanios MY, Chen JJ, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007; 356: 1317-1326.
9. Alder JK, Parry EM, Yegnasubramanian S, et al. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Hum Mutat 2013; 34: 1481-1485.
10. Fukuhara A, Tanino Y, Ishii T, et al. Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. Eur Respir J 2013; 42: 1757-1759.
11. Kuse N, Abe S, Hayashi H, et al. Familial interstitial pneumonia in an adolescent boy with surfactant protein C gene (Y104H) mutation. Sarcoidosis Vasc Diffuse Lung Dis 2013; 30: 73-77.
12. Fernandez BA, Fox G, Bhatia R, et al. A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features. Respir Res 2012; 13: 64.
13. Kropski JA, Mitchell DB, Markin C, et al. A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia. Chest 2014; 146: e1-e7.
14. Dokal I. Dyskeratosis congenita. Hematol Am Soc Hematol Educ Program 2011; 2011: 480-486.
15. Ding H, Schertzer M, Wu X, et al. Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell 2004; 117: 873-886.
16. Uringa EJ, Lisaingo K, Pickett HA, et al. RTEL1 contributes to DNA replication and repair and telomere maintenance. Mol Biol Cell 2012; 23: 2782-2792.
17. Cogan JD, Kropski JA, Zhao M, et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 2015; 191: 646-655.
18. Codd V, Nelson CP, Albrecht E, et al. Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet 2013; 45: 422-427.
19. Kannengiesser C, Revy P, Borie R, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis: 23 new mutations of TERT and TERC. Eur J Hum Genet 2013; 21: Suppl. 2, 451.
20. Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 2011; 183: 788-824.
21. GATK. GATK Best Practices. https://www.broadinstitute.org/gatk/guide/best-practices
22. Le Guen T, Jullien L, Touzot F, et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet 2013; 22: 3239-3249.
23. Soding J, Biegert A, Lupas AN. The HHpred interactive server for protein homology detection and structure prediction. Nucleic Acids Res 2005; 33: W244-W248.
24. Kelley LA, Sternberg MJ. Protein structure prediction on the Web: a case study using the Phyre server. Nat Protoc 2009; 4: 363-371.
25. Yang J, Yan R, Roy A, et al. The I-TASSER Suite: protein structure and function prediction. Nat Methods 2015; 12: 7-8.
26. Marti-Renom MA, Stuart AC, Fiser A, et al. Comparative protein structure modeling of genes and genomes. Annu Rev Biophys Biomol Struct 2000; 29: 291-325.
27. Wolski SC, Kuper J, Hanzelmann P, et al. Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD. PLoS Biol 2008; 6: e149.
28. Kuper J, Wolski SC, Michels G, et al. Functional and structural studies of the nucleotide excision repair helicase XPD suggest a polarity for DNA translocation. EMBO J 2012; 31: 494-502.
29. Faure G, Revy P, Schertzer M, et al. The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains. Proteins 2014; 82: 897-903.
30. Walne AJ, Vulliamy T, Kirwan M, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013; 92: 448-453.
31. Ballew BJ, Yeager M, Jacobs K, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Hum Genet 2013; 132: 473-480.
32. Deng Z, Glousker G, Molczan A, et al. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. Proc Natl Acad Sci USA 2013; 110: E3408-E3416.
33. Ballew BJ, Joseph V, De S, et al. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS Genet 2013; 9: e1003695.
34. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
35. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
36. Schwarz JM, Cooper DN, Schuelke M, et al. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11: 361-362.
37. Keller RB, Gagne KE, Usmani GN, et al. CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer 2012; 59: 311-314.
38. Kocak H, Ballew BJ, Bisht K, et al. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev 2014; 28: 2090-2102.
39. Singleton MR, Dillingham MS, Wigley DB. Structure and mechanism of helicases and nucleic acid translocases. Annu Rev Biochem 2007; 76: 23-50.
40. Uringa EJ, Youds JL, Lisaingo K, et al. RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination. Nucleic Acids Res 2011; 39: 1647-1655.
41. Wu Y, Brosh RM Jr. DNA helicase and helicase-nuclease enzymes with a conserved iron-sulfur cluster. Nucleic Acids Res 2012; 40: 4247-4260.
42. Vannier JB, Sarek G, Boulton SJ. RTEL1: functions of a disease-associated helicase. Trends Cell Biol 2014; 24: 416-425.
43. Faure G, Revy P, Schertzer M, et al. The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains. Proteins 2013; 82: 897-903.
44. Vannier JB, Sandhu S, Petalcorin MI, et al. RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. Science 2013; 342: 239-242.
45. Alder JK, Chen JJ, Lancaster L, et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci USA 2008; 105: 13051-13056.
46. Cronkhite JT, Xing C, Raghu G, et al. Telomere shortening in familial and sporadic pulmonary fibrosis. Am J Respir Crit Care Med 2008; 178: 729-737.
47. Stuart BD, Lee JS, Kozlitina J, et al. Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational cohort study with independent validation. Lancet Respir Med 2014; 2: 557-565.
48. Simeonova I, Jaber S, Draskovic I, et al. Mutant mice lacking the p53 C-terminal domain model telomere syndromes. Cell Rep 2013; 3: 2046-2058.
49. Armanios M, Blackburn EH. The telomere syndromes. Nat Rev Genet 2012; 13: 693-704.
50. Diaz de Leon A, Cronkhite JT, Katzenstein AL, et al. Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. PLoS One 2010; 5: e10680.
51. Lupski JR. Digenic inheritance and Mendelian disease. Nat Genet 2012; 44: 1291-1292.
52. Diaz de Leon A, Cronkhite JT, Yilmaz C, et al. Subclinical lung disease, macrocytosis, and premature graying in kindreds with telomerase (TERT) mutations. Chest 2011; 140: 753-763.
53. Calado RT, Regal JA, Kleiner DE, et al. A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One 2009; 4: e7926.
54. Silhan LL, Shah PD, Chambers DC, et al. Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. Eur Respir J 2014; 44: 178-187.
55. Borie R, Kannengiesser C, Hirschi S, et al. Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. J Heart Lung Transplant 2015; 34: 538-546.
56. Goronzy JJ, Fujii H, Weyand CM. Telomeres, immune aging and autoimmunity. Exp Gerontol 2006; 41: 246-251.
57. Walne AJ, Marrone A, Dokal I. Dyskeratosis congenita: a disorder of defective telomere maintenance? Int J Hematol 2005; 82: 184-189.
58. Fedick AM, Shi L, Jalas C, et al. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. Clin Genet 2014 [In press DOI: 10.1111/cge.12459].