Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex

Biochimie

Volumn 90, Issue 1, 2008, Pages 122-130

  Vulliamy, T J ^a   Dokal, I ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Aplastic anaemia; Dyskeratosis congenita; Ribosome biogenesis; Telomerase; Telomeres

Indexed keywords

DYSKERIN; TELOMERASE;

APLASTIC ANEMIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; DYSKERATOSIS CONGENITA; GENE MUTATION; HETEROZYGOTE; HUMAN; PATHOLOGY; RIBOSOME; RNA ANALYSIS; TELOMERE; X CHROMOSOME LINKED DISORDER;

ANEMIA, APLASTIC; CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN, X; DYSKERATOSIS CONGENITA; GENES, RECESSIVE; HUMANS; MUTATION; NUCLEAR PROTEINS; RIBONUCLEOPROTEINS, SMALL NUCLEOLAR; RNA; TELOMERASE; TELOMERE;

EID: 36749012920     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2007.07.017     Document Type: Article

References (63)

1. Sirinavin C., and Trowbridge A.A. Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. J. Med. Genet. 12 (1975) 339-354
2. Drachtman R.A., and Alter B.P. Dyskeratosis congenita. Dermatol. Clin. 13 (1995) 33-39
3. Heiss N.S., Knight S.W., Vulliamy T.J., Klauk S.M., Wiemann S., Mason P.J., et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 19 (1998) 32-38
4. Mitchell J.R., Cheng J., and Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol. Cell. Biol. 19 (1999) 567-576
5. Mitchell J.R., Wood E., and Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402 (1999) 551-555
6. Vulliamy T., Marrone A., Goldman F., Dearlove A., Bessler M., Mason P.J., and Dokal I. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413 (2001) 432-435
7. Vulliamy T.J., Marrone A., Dokal I., and Mason P.J. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 359 (2002) 2168-2170
8. Fogarty P.F., Yamaguchi H., Wiestner A., Baerlocher G.M., Sloand E., Zeng W.S., et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 362 (2003) 1628-1630
9. Yamaguchi H., Baerlocher G.M., Lansdorp P.M., Chanock S.J., Nunez O., Sloand E., et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 102 (2003) 916-918
10. Yamaguchi H., Calado R.T., Ly H., Kajigaya S., Baerlocher G.M., Chanock S.J., et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N. Engl. J. Med. 352 (2005) 1413-1424
11. Armanios M., Chen J.L., Chang Y.P., Brodsky R.A., Hawkins A., Griffin C.A., et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc. Natl. Acad. Sci. U.S.A. 102 (2005) 15960-15964
12. Xin Z.T., Beauchamp A.D., Calado R.T., Bradford J.W., Regal J.A., Shenoy A., Liang Y., Lansdorp P.M., Young N.S., and Ly H. Functional characterization of natural telomerase mutations found in patients with hematologic disorders. Blood 109 (2007) 524-532
13. Armanios M.Y., Chen J.J., Cogan J.D., Alder J.K., Ingersoll R.G., Markin C., Lawson W.E., Xie M., Vulto I., Phillips J.A., Lansdorp P.M., Greider C.W., and Loyd J.E. Telomerase mutations in families with idiopathic pulmonary fibrosis. N. Engl. J. Med. 356 (2007) 1317-1326
14. Walne J., Vulliamy T., Beswick R., Marrone A., Al-Qurashi F., Mahmoud Aljurf M., and Dokal I. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase associated protein NOP10. Human Mol. Genet. 16 (2007) 1619-1629
15. Dokal I. Dyskeratosis congenita in all its forms. Br. J. Haematol. 110 (2000) 768-779
16. Aalfs C.M., van den Berg H., Barth P.G., and Hennekam R.C. The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur. J. Pediatr. 154 (1995) 304-308
17. Knight S.W., Heiss N.S., Vulliamy T.J., Aalfs C.M., McMahon C., Richmond P., et al. 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
18. Yaghmai R., Kimyai-Asadi A., Rostamiani K., Heiss N.S., Poustka A., Eyaid W., Bodurtha J., Nousari H.C., Hamosh A., and Metzenberg A. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J. Pediatr. 136 (2000) 390-393
19. Cossu F., Vulliamy T.J., Badiali M., Cao A., and Dokal I. Bone marrow transplantation in an infant with Hoyerall-Hreidarrson syndrome associated with severe combined immune deficiency (T + B - NK - SCID) and a novel DKC1 mutation. Br. J. Haematol. 119 (2002) 765-768
20. Pai G.S., Yan Y., DeBauche D.M., Stanley W.S., and Paul S.R. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts. Cytogenet. Cell Genet. 52 (1989) 186-189
21. Coulthard S., Chase A., Pickard J., Goldman J., and Dokal I. Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. Br. J. Haematol. 102 (1998) 1162-1164
22. Alter B.P., Baerlocher G.M., Savage S.A., Chanock S.J., Weksler B.B., Willner J.P., Peters J.A., Giri N., and Lansdorp P.M. Very short telomere length by flow FISH identifies patients with Dyskeratosis Congenita. Blood 110 (2007) 1439-1447
23. Connor J.M., Gatherer D., Gray F.C., Pirrit L.A., and Affara N.A. Assignment of the gene for dyskeratosis congenita to Xq28. Hum. Genet. 72 (1986) 348-351
24. Knight S.W., Vulliamy T.J., Heiss N., Matthijs G., Devriendt K., Connor J.M., et al. 1.4 Mb candidate region for X-linked dyskeratosis congenita defined by combined haplotype and X-chromosome inactivation analysis. J. Med. Genet. 35 (1998) 993-996
25. He J., Navarrete S., Jasinski M., Vulliamy T., Dokal I., Bessler M., et al. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 21 (2002) 7740-7744
26. Heiss N.S., Girod A., Salowsky R., Wiemann S., Pepperkok R., and Poustka A. Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum. Mol. Genet. 8 (1999) 2515-2524
27. Youssoufian H., Gharibyan V., and Qatanani M. Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal. Blood Cells Mol. Dis. 25 (1999) 305-309
28. Meier U.T., and Blobel G. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J. Cell Biol. 127 (1994) 1505-1514
29. Jiang W., Middleton K., Yoon H.J., Fouquet C., and Carbon J. An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules. Mol. Cell. Biol. 13 (1993) 4884-4893
30. Tollervey D., and Kiss T. Function and synthesis of small nucleolar RNAs. Curr. Opin. Cell Biol. 9 (1997) 337-342
31. Wang C., and Meier U.T. Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. EMBO J. 23 (2004) 1857-1867
32. Meier U.T. The many facets of H/ACA ribonucleoproteins. Chromosoma 114 (2005) 1-14
33. Cadwell C., Yoon H.J., Zebarjadian Y., and Carbon J. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3. Mol. Cell. Biol. 17 (1997) 6175-6183
34. Marrone A., Walne A., and Dokal I. Dyskeratosis congenita: telomerase, telomeres and anticipation. Curr. Opin. Genet. Dev. 15 (2005) 249-257
35. Vulliamy T.J., Marrone M., Knight S., Walne A., Mason P.J., and Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 107 (2006) 2680-2685
36. Hamma T., Reichow S.L., Varani G., and Ferre-D'Amare A.R. The Cbf5-NOP10 complex is a molecular bracket that organizes box H/ACA RNPs. Nat. Struct. Mol. Biol. 12 (2005) 1101-1107
37. Rashid R., Liang B., Baker D.L., Youssef O.A., He Y., Phipps K., et al. Crystal structure of a Cbf5-NOP10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. Mol. Cell 21 (2006) 249-260
38. Li L., and Ye K. Crystal structure of an H/ACA box ribonucleoprotein particle. Nature 443 (2006) 302-307
39. Wong J.M., Kyasa M.J., Hutchins L., and Collins K. Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. Hum. Genet. 115 (2004) 448-455
40. Vulliamy T.J., Knight S.W., Mason P.J., and Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol. Dis. 27 (2001) 353-357
41. Wong J.M., and Collins K. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. Genes Dev. 20 (2006) 2848-2858
42. Montanaro L., Chilla A., Trere D., Pession A., Govoni M., Tazzari P.L., et al. Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. J. Invest. Dermatol. 118 (2002) 193-198
43. Montanaro L., Tazzari P.L., and Derenzini M. Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis. J. Clin. Pathol. 56 (2003) 583-586
44. Ruggero D., Grisendi S., Piazza F., Rego E., Mari F., Rao P.H., et al. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 299 (2003) 259-262
45. Yoon A., Peng G., Brandenburger Y., Zollo O., Xu W., Rego E., and Ruggero D. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science 312 (2006) 902-906
46. Mochizuki Y., He J., Kulkarni S., Bessler M., and Mason P.J. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 10756-10761
47. Ortmann C.A., Niemeyer C.M., Wawer A., Ebell W., Baumann I., and Kratz C.P. TERC mutations in children with refractory cytopenia. Haematologica 91 (2006) 707-708
48. Vulliamy T., Marrone A., Szydlo R., Walne A., Mason P.J., and Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat. Genet. 36 (2004) 447-449
49. Goldman F., Bouarich R., Kulkarni S., Freeman S., Du H.Y., Harrington L., et al. The effect of TERC haploinsufficiency on the inheritance of telomere length. Proc. Natl. Acad. Sci. U.S.A. 102 (2005) 17119-17124
50. Blasco M.A., Lee H.W., Hande M.P., Samper E., Lansdorp P.M., DePinho R.A., et al. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91 (1997) 25-34
51. Hathcock K.S., Hemann M.T., Opperman K.K., Strong M.A., Greider C.W., and Hodes R.J. Haploinsufficiency of mTR results in defects in telomere elongation. Proc. Natl. Acad. Sci. U.S.A. 99 (2002) 3591-3596
52. Hao L.Y., Armanios M., Strong M.A., Karim B., Feldser D.M., Huso D., et al. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Cell 16 (2005) 1121-1131
53. Theimer C.A., and Feigon J. Structure and function of telomerase RNA. Curr. Opin. Struct. Biol. 16 (2006) 307-318
54. Fu D., and Collins K. Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol. Cell 11 (2003) 1361-1372
55. Chen J.L., and Greider C.W. Telomerase RNA structure and function: implications for dyskeratosis congenita. Trends Biochem. Sci. 29 (2004) 183-192
56. Theimer C.A., Blois C.A., and Feigon J. Structure of the human telomerase RNA pseudoknot reveals conserved tertiary interactions essential for function. Mol. Cell 17 (2005) 671-682
57. Ly H., Calado R.T., Allard P., Baerlocher G.M., Lansdorp P.M., Young N.S., et al. Functional characterization of telomerase RNA variants found in patients with hematologic disorders. Blood 105 (2005) 2332-2339
58. Marrone A., Stevens D., Vulliamy T., Dokal I., and Mason P.J. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 104 (2004) 3936-3942
59. Ly H., Schertzer M., Jastaniah W., Davis J., Yong S.L., Ouyang Q., et al. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. Blood 106 (2005) 1246-1252
60. Cerone M.A., Ward R.J., Londono-Vallejo J.A., and Autexier C. Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. Cell Cycle 4 (2005) 585-589
61. Vulliamy T.J., Walne A., Baskaradas A., Mason P.J., Marrone A., and Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol. Dis. 34 (2005) 257-263
62. Liang J., Yagasaki H., Kamachi Y., Hama A., Matsumoto K., Kato K., Kudo K., and Kojima S. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica 91 (2006) 656-658
63. Tsakiri K.D., Cronkhite J.T., Kuan P.J., Xing C., Raghu G., Weissler J.C., Rosenblatt R.L., Shay J.W., and Garcia C.K. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 7552-7557