Human genome and diseases: Review. Dyskeratosis congenita

Cellular and Molecular Life Sciences

Volumn 60, Issue 3, 2003, Pages 507-517

  Marrone, A ^a   Mason, P J ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Ageing; Bone marrow failure; DC registry; Dyskeratosis congenita; Dyskerin; hTR; Telomerase

Indexed keywords

DYSKERIN; GENE PRODUCT; OXYMETHOLONE; PROTEIN; SMALL NUCLEAR RNA; TELOMERASE; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; DKC1 PROTEIN, HUMAN; NUCLEAR PROTEIN;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DKC1 GENE; DYSKERATOSIS CONGENITA; GENE; GENE ACTIVITY; GENE DISRUPTION; GENE LOCATION; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN GENOME; MULTIGENE FAMILY; NONHUMAN; REVIEW; STEM CELL TRANSPLANTATION; TREATMENT OUTCOME; X CHROMOSOME LINKAGE; ANIMAL; CHROMOSOME MAP; DOMINANT GENE; FEMALE; GENETICS; MALE; METABOLISM; MOUSE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE; X CHROMOSOME;

ANIMALS; CELL CYCLE PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DYSKERATOSIS CONGENITA; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MALE; MICE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; TELOMERASE;

EID: 0037362432     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s000180300042     Document Type: Review

References (89)

1. Zinsser F. (1906) Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris (poikilodermia atrophicans vascularis Jacobi). Ikonogr. Derm. (Kyoto) fas 5: 219-223
2. Engman M. (1926) A unique case of reticular pigmentation of the skin with atrophy. Arch. Derm. Syph. Suppl. 13: 685-687
3. Cole H., Rauschkolb J. and Toomey J. (1930) Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch. Derm. Syph. 21: 71-95
4. Sirinavin C. and Trowbridge A. A. (1975) Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature. J. Med. Genet. 12: 339-354
5. Drachtman R. A. and Alter B. P. (1995) Dyskeratosis congenita. Dermatol. Clin. 13: 33-39
6. Dokal I. (1996) Dyskeratosis congenita: an inherited bone marrow failure syndrome. Br. J. Haematol. 92: 775-779
7. Knight S., Vulliamy T., Copplestone A., Gluckman E., Mason P. and Dokal I. (1998) Dyskeratosis Congenita (DC) Registry: identification of new features of DC. Br. J. Haematol. 103: 990-996
8. Milgrom H., Stoll H. L. Jr and Crissey J. T. (1964) Dyskeratosis congenita: a case with new features. Arch. Derm. 89: 345-349
9. Dokal I. (2000) Dyskeratosis congenita in all its forms. Br. J. Haematol. 110: 768-779
10. Solder B., Weiss M., Jager A. and Belohradsky B. H. (1998) Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. A review of the literature. Clin. Pediatr. (Phila.) 37: 521-530
11. Marciniak R. A., Johnson F. B. and Guarente L. (2000) Dyskeratosis congenita, telomeres and human ageing. Trends Genet. 16: 193-195
12. Coulthard S., Chase A., Pickard J., Goldman J. and Dokal I. (1998) Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. Br. J. Haematol. 102: 1162-1164
13. Smith C. M., Ramsay N. K. C., Branda R., Nesbit M. E. and Krivit W. (1979) Response to androgens in the constitutional aplastic anemia of dyskeratosis congenita. Pediatr. Res. 13: 441
14. Costello M. J. and Buncke C. M. (1956) Dyskeratosis congenita. Arch. Derm. 73: 123-132
15. Scoggins R. B., Prescott K. J., Asher G. H., Blaylock W. K. and Bright R. W. (1971) Dyskeratosis congenita with Fanconi-type anemia: investigations of immunologic and other defects. Clin. Res. 19: 409
16. Connor J. M. and Teague R. H. (1981) Dyskeratosis congenita. Report of a large kindred. Br. J. Dermatol. 105: 321-325
17. Connor J. M., Gatherer D., Gray F. C., Pirrit L. A. and Affara N. A. (1986) Assignment of the gene for dyskeratosis congenita to Xq28. Hum. Genet. 72: 348-351
18. Arngrimsson R., Dokal I., Luzzatto L. and Connor J. M. (1993) Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. J. Med. Genet. 30: 618-619
19. Knight S. W., Vulliamy T., Forni G. L., Oscier D., Mason P. J. and Dokal I. (1996) Fine mapping of the dyskeratosis congenita locus in Xq28. J. Med. Genet. 33: 993-995
20. Knight S. W., Vulliamy T. J., Heiss N. S., Matthijs G., Devriendt K., Connor J. M. et al. (1998) 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J. Med. Genet. 35: 993-996
21. Allen R. C., Zoghbi H. Y., Moseley A. B., Rosenblatt H. M. and Belmont J. W. (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51: 1229-1239
22. Fey M. F., Liechti-Gallati S., von Rohr A., Borisch B., Theilkas L., Schneider V. et al. (1994) Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe. Blood 83: 931-938
23. Devriendt K., Matthijs G., Legius E., Schollen E., Blockmans D., van Geet C. et al. (1997) Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am. J. Hum Genet. 60: 581-587
24. Ferraris A. M., Forni G. L., Mangerini R. and Gaetani G. F. (1997) Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. Am. J. Hum. Genet. 61: 458-461
25. Vulliamy T. J., Knight S. W., Dokal I. and Mason P. J. (1997) Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 90: 2213-2216
26. Vulliamy T. J., Knight S. W., Heiss N. S., Smith O. P., Poustka A., Dokal I. et al. (1999) Dyskeratosis congenita caused by a 3′ deletion: germline and somatic mosaicism in a female carrier. Blood 94: 1254-1260
27. Heiss N. S., Knight S. W., Vulliamy T. J., Klauck S. M., Wiemann S., Mason P. J. et al. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 19: 32-38
28. Hassock S., Vetrie D. and Giannelli F. (1999) Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics 55: 21-27
29. Knight S. W., Heiss N. S., Vulliamy T. J., Greschner S., Stavrides G., Pai G. S. et al. (1999) X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am. J. Hum. Genet. 65: 50-58
30. Heiss N. S., Girod A., Salowsky R., Wiemann S., Pepperkok R. and Poustka A. (1999) Dyskerin localizes to the nucleolus nd its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum. Mol. Genet. 8: 2515-2524
31. Youssoufian H., Gharibyan V. and Qatanani M. (1999) Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal. Blood Cells Mol. Dis. 25: 305-309
32. Jiang W., Middleton K., Yoon H. J., Fouquet C. and Carbon J. (1993) An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules. Mol. Cell Biol. 13: 4884-4893
33. Meier U. T. and Blobel G. (1994) NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J. Cell Biol. 127: 1505-1514
34. Lafontaine D. L., Bousquet-Antonelli C., Henry Y., Caizergues-Ferrer M. and Tollervey D. (1998) The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev. 12: 527-537
35. Phillips B., Billin A. N., Cadwell C., Buchholz R., Erickson C., Merriam J. R. et al. (1998) The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast. Mol. Gen. Genet. 260: 20-29
36. Giordano E., Peluso I., Senger S. and Furia M. (1999) minifly, a Drosophila gene required for ribosome biogenesis. J. Cell Biol. 144: 1123-1133
37. Becker H. F., Motorin Y., Planta R. J. and Grosjean H. (1997) The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs. Nucleic Acids Res. 25: 4493-4499
38. Zebarjadian Y., King T., Fournier M. J., Clarke L. and Carbon J. (1999) Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA. Mol. Cell Biol. 19: 7461-7472
39. Aravind L. and Koonin E. V. (1999) Novel predicted RNA-binding domains associated with the translation machinery. J. Mol. Evol. 48: 291-302
40. Ramamurthy V., Swann S. L., Paulson J. L., Spedaliere C. J. and Mueller E. G. (1999) Critical aspartic acid residues in pseudouridine synthases. J. Biol. Chem. 274: 22225-22230
41. Ni J., Tien A. L. and Fournier M. J. (1997) Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosomal RNA. Cell 89: 565-573
42. Filipowicz W. and Pogacic V. (2002) Biogenesis of small nucleolar ribonucleoproteins. Curr. Opin. Cell Biol. 14: 319-327
43. Kressler D., Linder P. and de La C. J. (1999) Protein trans-acting factors involved in ribosome biogenesis in Saccharomyces cerevisiae. Mol. Cell Biol. 19: 7897-7912
44. Kiss T. (2001) Small nucleolar RNA-guided post- transcriptional modification of cellular RNAs. EMBO J. 20: 3617-3622
45. Cadwell C., Yoon H. J., Zebarjadian Y. and Carbon J. (1997) 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: 6175-6183
46. Mitchell J. R., Cheng J. and Collins K. (1999) A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol. Cell Biol. 19: 567-576
47. Mitchell J. R., Wood E. and Collins K. (1999) A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402: 551-555
48. Pogacic V., Dragon F. and Filipowicz W. (2000) Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Mol. Cell Biol. 20: 9028-9040
49. Lukowiak A. A., Narayanan A., Li Z. H., Terns R. M. and Terns M. P. (2001) The snoRNA domain of vertebrate telomerase RNA functions to localize the RNA within the nucleus. RNA 7: 1833-1844
50. Collins K. and Mitchell J. R. (2002) Telomerase in the human organism. Oncogene 21: 564-579
51. Yang Y., Chen Y., Zhang C., Huang H. and Weissman S. M. (2002) Nucleolar localization of hTERT protein is associated with telomerase function. Exp. Cell Res 277: 201-209
52. Vulliamy T. J., Knight S. W., Mason P. J. and Dokal I. (2001) Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol. Dis. 27: 353-357
53. Montanaro L., Chilla A., Trere D., Pession A., Govoni M., Tazzari P. L. et al. (2002) Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. J. Invest. Dermatol. 118: 193-198
54. Huttenhofer A., Kiefmann M., Meier-Ewert S., O'Brien J., Lehrach H., Bachellerie J. P. et al. (2001) RNomics: an experimental approach that identifies 201 candidates for novel, small, non-messenger RNAs in mouse. EMBO J. 20: 2943-2953
55. Rostamiani K., Heiss N., Poustka A. and Metzenberg A. (1999) Novel missense mutations in the DKC1 gene in patients with dyskeratosis congenita. Am. J. Hum. Genet. 65: A488
56. Heiss N. S., Megarbane A., Klauck S. M., Kreuz F. R., Makhoul E., Majewski F. et al. (2001) One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). Genet. Couns. 12: 129-136
57. Knight S. W., Vulliamy T. J., Morgan B., Devriendt K., Mason P. J. and Dokal I. (2001) Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum. Genet. 108: 299-303
58. Knight S. W., Heiss N. S., Vulliamy T. J., Aalfs C. M., McMahou C., Richmond P. et al. (1999) Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br. J. Haematol. 107: 335-339
59. Yaghmai R., Kimyai-Asadi A., Rostamiani K., Heiss N. S., Poustka A., Eyaid W. et al. (2000) Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J. Pediatr. 136: 390-393
60. Vulliamy T., Marrone A., Goldman F., Dearlove A., Bessler M., Mason J. P. et al. (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413: 432-435
61. Soder A. I., Hoare S. F., Muir S., Going J. J., Parkinson E. K. and Keith W. N. (1997) Amplification, increased dosage and in situ expression of the telomerase RNA gene in human cancer. Oncogene 14: 1013-1021
62. Vulliamy T., Marrone A., Dokal I. and Mason P. J. (2002) Association between aplastic anaemia and mutations in telomerase RNA. Lancet 359: 2168-2170
63. Blackburn E. H. (1991) Structure and function of telomeres. Nature 350: 569-573
64. Greider C. W. (1996) Telomere length regulation. Annu. Rev. Biochem 65: 337-365
65. Lingner J., Hughes T. R., Shevchenko A., Mann M., Lundblad V. and Cech T. R. (1997) Reverse transcriptase motifs in the catalytic subunit of telomerase. Science 276: 561-567
66. Chen J. L., Blasco M. A. and Greider C. W. (2000) Secondary structure of vertebrate telomerase RNA. Cell 100: 503-514
67. Harley C. B., Futcher A. B. and Greider C. W. (1990) Telomeres shorten during ageing of human fibroblasts. Nature 345: 458-460
68. Kim N. W., Piatyszek M. A., Prowse K. R., Harley C. B., West M. D., Ho P. L. et al. (1994) Specific association of human telomerase activity with immortal cells and cancer. Science 266: 2011-2015
69. Hiyama K., Hirai Y., Kyoizumi S., Akiyama M., Hiyama E., Piatyszek M. A. et al. (1995) Activation of telomerase in human lymphocytes and hematopoietic progenitor cells. J. Immunol. 155: 3711-3715
70. Morrison S. J., Prowse K. R., Ho P. and Weissman I. L. (1996) Telomerase activity in hematopoietic cells is associated with self- renewal potential. Immunity 5: 207-216
71. Wright W. E., Piatyszek M. A., Rainey W. E., Byrd W. and Shay J. W. (1996) Telomerase activity in human germline and embryonic tissues and cells. Dev. Genet. 18: 173-179
72. Martin-Rivera L. and Blasco M. A. (2001) Identification of functional domains and dominant negative mutations in vertebrate telomerase RNA using an in vivo reconstitution system. J. Biol. Chem. 276: 5856-5865
73. Young N. S. (2002) Acquired aplastic anemia. Ann. Intern. Med. 136: 534-546
74. Ball S. E., Gibson F. M., Rizzo S., Tooze J. A., Marsh J. C. and Gordon-Smith E. C. (1998) Progressive telomere shortening in aplastic anemia. Blood 91: 3582-3592
75. Blasco M. A., Lee H. W., Hande M. P., Samper E., Landsdorp P. M., DePinho R. A. et al. (1997) Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91: 25-34
76. Lee H. W., Blasco M. A., Gottlieb G. J., Horner J. W., Greider C. W. and DePinho R. A. (1998) Essential role of mouse telomerase in highly proliferative organs. Nature 392: 569-574
77. Rudolph K. L., Chang S., Lee H. W., Blasco M., Gottlieb G. J., Greider C. et al. (1999) Longevity, stress response and cancer in aging telomerase-deficient mice. Cell 96: 701-712
78. Herrera E., Samper E., Martin-Caballero J., Flores J. M., Lee H. W. and Blasco M. A. (1999) Disease states associated with telomerase deficiency appear earlier in mice with short telomeres. EMBO J. 18: 2950-2960
79. Ganot P., Bortolin M. L. and Kiss T. (1997) Site-specific pseudouridine formation in preribosomal RNA is guided by small nucleolar RNAs. Cell 89: 799-809
80. Henras A., Henry Y., Bousquet-Antonelli C., Noaillac-Depeyre J., Gelugne J. P. and Caizergues-Ferrer M. (1998) Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. EMBO J. 17: 7078-7090
81. Lafontaine D. L. and Tollervey D. (1998) Birth of the snoRNPs: the evolution of the modification-guide snoRNAs. Trends Biochem. Sci. 23: 383-388
82. Watkins N. J., Gottschalk A., Neubauer G., Kastner B., Fabrizio P., Mann M. et al. (1998) Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA- binding protein, are present together with Gar1p in all H BOX/ACA-motif snoRNPs and constitute a common bipartite structure. RNA 4: 1549-1568
83. Bousquet-Antonelli C., Henry Y., G'elugne J. P., Caizergues-Ferrer M. and Kiss T. (1997) A small nucleolar RNP protein is required for pseudouridylation of eukaryotic ribosomal RNAs. EMBO J. 16: 4770-4776
84. Girard J. P., Lehtonen H., Caizergues-Ferrer M., Amalric F., Tollervey D. and Lapeyre B. (1992) GAR1 is an essential small nucleolar RNP protein required for pre-rRNA processing in yeast. EMBO J. 11: 673-682
85. Schnapp G., Rodi H. P., Rettig W. J., Schnapp A. and Damm K. (1998) One-step affinity purification protocol for human telomerase. Nucleic Acids Res. 26: 3311-3313
86. Nakayama J., Saito M., Nakamura H., Matsuura A. and Ishikawa F. (1997) TLP1: a gene encoding a protein component of mammalian telomerase is a novel member of WD repeats family. Cell 88: 875-884
87. Nakamura T. M., Morin G. B., Chapman K. B., Weinrich S. L., Andrews W. H., Lingner J. et al. (1997) Telomerase catalytic subunit homologs from fission yeast and human. Science 277: 955-959
88. Harrington L., McPhail T., Mar V., Zhou W., Oulten R., Bass M. B. et al. (1997) A mammalian telomerase-associated protein. Science 275: 973-977
89. Forsythe H. L., Jarvis J. L., Turner J. W., Elmore L. W. and Holt S. E. (2001) Stable association of hsp90 and p23, but Not hsp70, with active human telomerase. J. Biol. Chem. 276: 15571-15574