Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 448-453

  Walne, Amanda J ^a   Vulliamy, Tom ^a   Kirwan, Michael ^a   Plagnol, Vincent ^b   Dokal, Inderjeet ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE; REGULATOR OF TELOMERE LENGTH 1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BONE MARROW DISEASE; CHILD; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HOMOLOGOUS RECOMBINATION; HOYERAAL HREIDARSSON SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TELOMERE; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DYSKERATOSIS CONGENITA; EXOME; FEMALE; FETAL GROWTH RETARDATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, PROTEIN; TELOMERE; TELOMERE SHORTENING;

EID: 84876410662     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.02.001     Document Type: Article

References (23)

1. P.J. Mason, and M. Bessler The genetics of dyskeratosis congenita Cancer Genet 204 2011 635 645
2. S.A. Savage, and A.A. Bertuch The genetics and clinical manifestations of telomere biology disorders Genet. Med. 12 2010 753 764
3. I. Dokal Dyskeratosis congenita Hematology (Am Soc Hematol Educ Program) 2011 2011 480 486
4. R.B. Keller, K.E. Gagne, G.N. Usmani, G.K. Asdourian, D.A. Williams, I. Hofmann, and S. Agarwal CTC1 Mutations in a patient with dyskeratosis congenita Pediatr. Blood Cancer 59 2012 311 314
5. A. Marrone, A. Walne, H. Tamary, Y. Masunari, M. Kirwan, R. Beswick, T. Vulliamy, and I. Dokal Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome Blood 110 2007 4198 4205
6. N.D. Nelson, and A.A. Bertuch Dyskeratosis congenita as a disorder of telomere maintenance Mutat. Res. 730 2012 43 51
7. T.J. Vulliamy, A. Marrone, S.W. Knight, A. Walne, P.J. Mason, and I. Dokal Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation Blood 107 2006 2680 2685
8. S.W. Knight, N.S. Heiss, T.J. Vulliamy, C.M. Aalfs, C. McMahon, P. Richmond, A. Jones, R.C. Hennekam, A. Poustka, P.J. Mason, and I. Dokal Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 Br. J. Haematol. 107 1999 335 339
9. H. Ding, M. Schertzer, X. Wu, M. Gertsenstein, S. Selig, M. Kammori, R. Pourvali, S. Poon, I. Vulto, and E. Chavez Regulation of murine telomere length by Rtel: An essential gene encoding a helicase-like protein Cell 117 2004 873 886
10. E.J. Uringa, J.L. Youds, K. Lisaingo, P.M. Lansdorp, and S.J. Boulton RTEL1: An essential helicase for telomere maintenance and the regulation of homologous recombination Nucleic Acids Res. 39 2011 1647 1655
11. J.B. Vannier, V. Pavicic-Kaltenbrunner, M.I. Petalcorin, H. Ding, and S.J. Boulton RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity Cell 149 2012 795 806
12. N. Lamm, E. Ordan, R. Shponkin, C. Richler, M. Aker, and Y. Tzfati Diminished telomeric 3′ overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome PLoS ONE 4 2009 e5666
13. T. de Lange Shelterin: The protein complex that shapes and safeguards human telomeres Genes Dev. 19 2005 2100 2110
14. J.D. Griffith, L. Comeau, S. Rosenfield, R.M. Stansel, A. Bianchi, H. Moss, and T. de Lange Mammalian telomeres end in a large duplex loop Cell 97 1999 503 514
15. R.M. Cawthon Telomere length measurement by a novel monochrome multiplex quantitative PCR method Nucleic Acids Res. 37 2009 e21
16. A.J. Walne, T. Vulliamy, R. Beswick, M. Kirwan, and I. Dokal Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome Hum. Mol. Genet. 19 2010 4453 4461
17. E.J. Uringa, K. Lisaingo, H.A. Pickett, J. Brind'Amour, J.H. Rohde, A. Zelensky, J. Essers, and P.M. Lansdorp RTEL1 contributes to DNA replication and repair and telomere maintenance Mol. Biol. Cell 23 2012 2782 2792
18. H.A. Pickett, J.D. Henson, A.Y. Au, A.A. Neumann, and R.R. Reddel Normal mammalian cells negatively regulate telomere length by telomere trimming Hum. Mol. Genet. 20 2011 4684 4692
19. B. Zellinger, S. Akimcheva, J. Puizina, M. Schirato, and K. Riha Ku suppresses formation of telomeric circles and alternative telomere lengthening in Arabidopsis Mol. Cell 27 2007 163 169
20. K. Paeschke, K.R. McDonald, and V.A. Zakian Telomeres: Structures in need of unwinding FEBS Lett. 584 2010 3760 3772
21. R.J. Monnat Jr. Human RECQ helicases: Roles in DNA metabolism, mutagenesis and cancer biology Semin. Cancer Biol. 20 2010 329 339
22. M. Levitus, Q. Waisfisz, B.C. Godthelp, Y. de Vries, S. Hussain, W.W. Wiegant, E. Elghalbzouri-Maghrani, J. Steltenpool, M.A. Rooimans, and G. Pals The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J Nat. Genet. 37 2005 934 935
23. F. Touzot, L. Gaillard, N. Vasquez, T. Le Guen, Y. Bertrand, J. Bourhis, T. Leblanc, A. Fischer, J. Soulier, J.P. de Villartay, and P. Revy Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita J. Allergy Clin. Immunol. 129 2012 473 482 e3