Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

Human Genetics

Volumn 132, Issue 4, 2013, Pages 473-480

  Ballew, Bari J ^a   Yeager, Meredith ^b   Jacobs, Kevin ^b   Giri, Neelam ^a   Boland, Joseph ^b   Burdett, Laurie ^b   Alter, Blanche P ^a   Savage, Sharon A ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b SAIC FREDERICK INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR OF TELOMERE ELONGATION HELICASE 1; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALGORITHM; ARTICLE; BONE MARROW DEPRESSION; CHILD; CHROMOSOME SIZE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER MODEL; DYSKERATOSIS CONGENITA; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GERM LINE; HOYERAAL HREIDARSSON SYNDROME; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RTEL1 GENE; SCHOOL CHILD; STOP CODON; TELOMERE;

ADULT; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DYSKERATOSIS CONGENITA; EXOME; FAMILY; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; TELOMERE;

EID: 84876503523     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1265-8     Document Type: Article

References (37)

1. 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061-1073. doi: 10.1038/nature09534
2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249. doi: 10.1038/nmeth0410-248
3. Alter BP, Giri N, Savage SA, Rosenberg PS (2009) Cancer in dyskeratosis congenita. Blood 113:6549-6557. doi: 10.1182/blood-2008-12-192880
4. Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS (2010) Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 150:179-188. doi: 10.1111/j.1365-2141.2010.08212.x
5. Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA (2012) Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 97:353-359. doi: 10.3324/haematol. 2011.055269
6. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW (2005) Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 102:15960-15964. doi: 10.1073/pnas.0508124102
7. Baerlocher GM, Vulto I, de Jong G, Lansdorp PM (2006) Flow cytometry and FISH to measure the average length of telomeres (flow FISH). Nat Protoc 1:2365-2376. doi: 10.1038/nprot.2006.263
8. Binkley J, Karra K, Kirby A, Hosobuchi M, Stone EA, Sidow A (2010) ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses. Genome Res 20:142-154. doi: 10.1101/gr.097121.109
9. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491-498. doi: 10.1038/ng.806
10. Ding H, Schertzer M, Wu X, Gertsenstein M, Selig S, Kammori M, Pourvali R, Poon S, Vulto I, Chavez E, Tam PP, Nagy A, Lansdorp PM (2004) Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell 117:873-886. doi: 10.1016/j.cell.2004.05.026
11. Egan KM, Thompson RC, Nabors LB, Olson JJ, Brat DJ, Larocca RV, Brem S, Moots PL, Madden MH, Browning JE, Ann Chen Y (2011) Cancer susceptibility variants and the risk of adult glioma in a US case-control study. J Neurooncol 104:535-542. doi: 10.1007/s11060-010-0506-0
12. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-666
13. Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC (2011) Kaviar: an accessible system for testing SNV novelty. Bioinformatics 27:3216-3217. doi: 10.1093/bioinformatics/btr540
14. Gonzalez-Perez A, Lopez-Bigas N (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 88:440-449. doi: 10.1016/j.ajhg.2011.03.004
15. Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, Agarwal S (2012) CTC1 Mutations in a patient with dyskeratosis congenita. Pediatr Blood Cancer 59:311-314. doi: 10.1002/pbc.24193
16. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y (1999) Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 22:82-84. doi: 10.1038/8788
17. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081. doi: 10.1038/nprot.2009.86
18. Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group. J. Nat Genet 37:934-935. doi: 10.1038/ng1625
19. Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I (2007) Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 110:4198-4205. doi: 10.1182/blood-2006-12-062851
20. Nelson ND, Bertuch AA (2012) Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res 730:43-51. doi: 10.1016/j.mrfmmm.2011.06.008
21. Notredame C, Higgins DG, Heringa J (2000) T-Coffee: a novel method for fast and accurate multiple sequence alignment. J Mol Biol 302:205-217. doi: 10.1006/jmbi.2000.4042
22. Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A, Jakobsdottir M, Helgadottir H, Thorlacius S, Aben KK, Blondal T, Thorgeirsson TE, Thorleifsson G, Kristjansson K, Thorisdottir K, Ragnarsson R, Sigurgeirsson B, Skuladottir H, Gudbjartsson T, Isaksson HJ, Einarsson GV, Benediktsdottir KR, Agnarsson BA, Olafsson K, Salvarsdottir A, Bjarnason H, Asgeirsdottir M, Kristinsson KT, Matthiasdottir S, Sveinsdottir SG, Polidoro S, Hoiom V, Botella-Estrada R, Hemminki K, Rudnai P, Bishop DT, Campagna M, Kellen E, Zeegers MP, de Verdier P, Ferrer A, Isla D, Vidal MJ, Andres R, Saez B, Juberias P, Banzo J, Navarrete S, Tres A, Kan D, Lindblom A, Gurzau E, Koppova K, de Vegt F, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, Oosterwijk E, van Hooij O, Nagore E, Porru S, Steineck G, Hansson J, Buntinx F, Catalona WJ, Matullo G, Vineis P, Kiltie AE, Mayordomo JI, Kumar R, Kiemeney LA, Frigge ML, Jonsson T, Saemundsson H, Barkardottir RB, Jonsson E, Jonsson S, Olafsson JH, Gulcher JR, Masson G, Gudbjartsson DF, Kong A, Thorsteinsdottir U, Stefansson K (2009) Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet 41:221-227. doi: 10.1038/ng.296
23. Savage SA, Bertuch AA (2010) The genetics and clinical manifestations of telomere biology disorders. Genet Med 12:753-764. doi: 10.1097GIM. 0b013e3181f415b5
24. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP (2008) TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 82:501-509. doi: 10.1016/j.ajhg.2007.10. 004
25. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29:308-311
26. Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, Simon M, Marie Y, Boisselier B, Delattre JY, Hoang-Xuan K, El Hallani S, Idbaih A, Zelenika D, Andersson U, Henriksson R, Bergenheim AT, Feychting M, Lonn S, Ahlbom A, Schramm J, Linnebank M, Hemminki K, Kumar R, Hepworth SJ, Price A, Armstrong G, Liu Y, Gu X, Yu R, Lau C, Schoemaker M, Muir K, Swerdlow A, Lathrop M, Bondy M, Houlston RS (2009) Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet 41:899-904. doi: 10.1038/ng.407
27. Uringa EJ, Lisaingo K, Pickett HA, Brind'amour J, Rohde JH, Zelensky A, Essers J, Lansdorp PM (2012) RTEL1 contributes to DNA replication and repair and telomere maintenance. Mol Biol Cell 23:2782-2792. doi: 10.1091/mbc.E12-03-0179
28. Vannier JB, Pavicic-Kaltenbrunner V, Petalcorin MI, Ding H, Boulton SJ (2012) RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity. Cell 149:795-806. doi: 10.1016/j.cell.2012.03.030
29. Verdun RE, Karlseder J (2006) The DNA damage machinery and homologous recombination pathway act consecutively to protect human telomeres. Cell 127:709-720. doi: 10.1016/j.cell.2006.09.034
30. Vulliamy TJ, Dokal I (2008) Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie 90:122-130. doi: 10.1016/j.biochi.2007.07.017
31. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I (2004) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36:447-449. doi: 10.1038/ng1346
32. Wallace IM, O'Sullivan O, Higgins DG, Notredame C (2006) M-Coffee: combining multiple sequence alignment methods with T-Coffee. Nucleic Acids Res 34:1692-1699. doi: 10.1093/nar/gkl091
33. Walne A, Bhagat T, Kirwan M, Gitaux C, Desguerre I, Leonard N, Nogales E, Vulliamy T, Dokal I (2012) Mutations in the telomere capping complex in bone marrow failure and related syndromes. Haematologica. doi: 10.3324/haematol.2012. 071068
34. Wang RC, Smogorzewska A, de Lange T (2004) Homologous recombination generates T-loop-sized deletions at human telomeres. Cell 119:355-368. doi: 10.1016/j.cell.2004.10.011
35. Waterhouse AM, Procter JB, Martin DM, Clamp M, Barton GJ (2009) Jalview Version 2-a multiple sequence alignment editor and analysis workbench. Bioinformatics 25:1189-1191. doi: 10.1093/bioinformatics/btp033
36. Wrensch M, Jenkins RB, Chang JS, Yeh RF, Xiao Y, Decker PA, Ballman KV, Berger M, Buckner JC, Chang S, Giannini C, Halder C, Kollmeyer TM, Kosel ML, LaChance DH, McCoy L, O'Neill BP, Patoka J, Pico AR, Prados M, Quesenberry C, Rice T, Rynearson AL, Smirnov I, Tihan T, Wiemels J, Yang P, Wiencke JK (2009) Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Nat Genet 41:905-908. doi: 10.1038/ng.408
37. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (1996) Positional cloning of the Werner's syndrome gene. Science 272:258-262