Stem cells, telomerase and dyskeratosis congenita

BioEssays

Volumn 25, Issue 2, 2003, Pages 126-133

  Mason, Philip J ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN; TELOMERASE;

APLASTIC ANEMIA; BONE MARROW DEPRESSION; CARCINOGENESIS; DYSKERATOSIS CONGENITA; GENE MUTATION; HUMAN; NONHUMAN; REVIEW; STEM CELL; STEM CELL TRANSPLANTATION; TELOMERE;

ANEMIA, APLASTIC; ANIMALS; ANTICIPATION, GENETIC; CELL CYCLE PROTEINS; DYSKERATOSIS CONGENITA; FEMALE; GENES, DOMINANT; HUMANS; MALE; MICE; MICE, KNOCKOUT; MUTATION; NUCLEAR PROTEINS; PEDIGREE; STEM CELLS; TELOMERASE;

EID: 0037323195     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.10229     Document Type: Review

References (69)

1. Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 1985;43:405-413.
2. Collins K, Mitchell JR. Telomerase in the human organism. Oncogene 2002;21:564-579.
3. Harley CB, Futcher AB, Greider CW. Telomeres shorten during ageing of human fibroblasts. Nature 1990;345:458-460.
4. Wright WE, Piatyszek MA, Rainey WE, Byrd W, Shay JW. Telomerase activity in human germline and embryonic tissues and cells. Dev Genet 1996;18:173-179.
5. Kim NW, Piatyszek MA, Prowse KR, Harley CB, West MD, Ho PL, Coviello GM, Wright WE, Weinrich SL, Shay JW Specific association of human telomerase activity with immortal cells and cancer. Science 1994;266:2011-2015.
6. Yasumoto S, Kunimura C, Kikuchi K, Tahara H, Ohji H, Yamamoto H, Ide T, Utakoji T. Telomerase activity in normal human epithelial cells. Oncogene 1996;13:433-439.
7. Harle-Bachor C, Boukamp P. Telomerase activity in the regenerative basal layer of the epidermis inhuman skin and in immortal and carcinoma-derived skin keratinocytes. Proc Natl Acad Sci USA 1996;93:6476-6481.
8. Broccoli D, Young JW, de Lange T. Telomerase activity in normal and malignant hematopoietic cells. Proc Natl Acad Sci USA 1995;92:9082-9086.
9. Hiyama K, Hirai Y, Kyoizumi S, Akiyama M, Hiyama E, Piatyszek MA, Shay JW, Ishioka S, Yamakido M, Activation of telomerase in human lymphocytes and hematopoietic progenitor cells. J Immunol 1995;155:3711-3715.
10. Chiu CP, Dragowska W, Kim NW, Vaziri H, Yui J, Thomas TE, Harley CB, Lansdorp PM. Differential expression of telomerase activity in hematopoietic progenitors from adult human bone marrow. Stem Cells 1996;14:239-248.
11. Vaziri H, Dragowska W, Allsopp RC, Thomas TE, Harley CB, Lansdorp PM. Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age. Proc Natl Acad Sci USA 1994;91:9857-9860
12. Notaro R, Cimmino A, Tabarini D, Rotoli B, Luzzatto L. In vivo telomere dynamics of human hematopoietic stem cells. Proc Natl Acad Sci USA 1997;94:13782-13785.
13. Allsopp RC, Cheshier S, Weissman IL Telomere shortening accompanies increased cell cycle activity during serial transplantation of hematopoietic stem cells. J Exp Med 2001;193:917-924.
14. Samper E, Fernandez P, Eguia R, Martin-Rivera L, Bernad A, Blasco MA, Aracil M. Long-term repopulating ability of telomerase-deficient murine hematopoietic stem cells Blood 2002;99:2767-2775.
15. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol 2000;110: 768-779.
16. Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet 1986;72:348-351.
17. Arngrimsson R, Dokal I, Luzzatto L, Connor JM. Dyskeratosis congenita: three additional families show linkage to a locus in Xq28 J Med Genet 1993;30:618-619.
18. Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, Degreef H, Cassiman JJ, Fryns JP. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet 1997;60:581-587.
19. Ferraris AM, Forni GL, Mangerini R, Gaetani GF Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. Am J Hum Genet 1997;61:458-461.
20. Vulliamy TJ, Knight SW, Dokal I, Mason PJ. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 1997;90:2213-2216.
21. Knight SW, Vulliamy TJ, Heiss NS, Matthijs G, Devriendt K, Connor JM, D'Urso M, Poustka A, Mason PJ, Dokal I. 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. J Med Genet 1998;35:993-996.
22. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998;19:32-38.
23. Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. Blood 1999;94:1254-1260.
24. Knight SW, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet 1999;65:50-58.
25. Hassock S, Vetrie D, Giannelli F. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics 1999;55:21-27.
26. Cadwell C, Yoon HJ, Zebarjadian Y, 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 1997; 17:6175-6183.
27. Lafontaine DL, Bousquet-Antonelli C, Henry Y, Caizergues-Ferrer M, Tollervey D. The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase, Genes Dev 1998;12:52-537.
28. Meier UT, Blobel G. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J Cell Biol 1994;127:1505-1514.
29. Filipowicz W, Pogacic V. Biogenesis of small nucleolar ribonucleoproteins. Current Opinion in Cell Biology 2002;14:319-327
30. Ramamurthy V, Swann SL, Paulson JL, Spedaliere CJ, Mueller EG. Critical aspartic acid residues in pseudouridine synthases. J Biol Chem 1999;274:22225-22230.
31. Spedaliere CJ, Hamilton CS, Mueller EG. Functional importance of motif I of pseudouridine synthases: mutagenesis of aligned lysine and proline residues. Biochemistry 2000;39:9459-9465
32. Charette M, Gray MW. Pseudouridine in RNA: what, where, how, and why. IUBMB Life 2000;49:341-351.
33. Luzzatto L, Karadimitris A. Dyskeratosis and ribosomal rebellion. Nat Genet 1998;19:6-7.
34. Mitchell JR, Cheng J, Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol Cell Biol 1999;19:567-576.
35. Dragon F, Pogacic V, Filipowicz W. In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs. Mol Cell Biol 2000;20:3037-3048.
36. Pogacic V, Dragon F, Fillpowicz W Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Mol Cell Biol 2000;20:9028-9040.
37. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita Nature 1999;402:551-555
38. Montanaro L, Chilla A, Trere D, Peseion A, Govoni M, Tazzari PL, Derenzini M Increased Mortality Rate and Not Impaired Ribosomal Biogenesis is Responsible for Proliferative Defect in Dyskeratosis Congenita Cell Lines. J Invest Dermatol 2002;118:193-198.
39. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-435.
40. Beattie TL, Zhou W, Robinson MO, Harrington L Functional multimerization of the human telomerase reverse transcriptase. Mol Cell Biol 2001;21:6151-6160.
41. Wenz C, Enenkel B, Amacker M, Kelleher C, Damm K, Lingner J. Human telomerase contains two cooperating telomerase RNA molecules. EMBO J 2001;20:3526-3534.
42. Marciniak R, Guarente L. Human genetics. Testing telomerase. Nature 2001;413:370-371.
43. Blasco MA, Lee HW, Hande MP, Samper E, Lansdorp PM, DePinho RA, Greider CW Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 1997;91:25-34.
44. Lee HW, Blasco MA, Gottlieb GJ, Horner JW 2nd, Greider CW, DePinho RA. Essential role of mouse telomerase in highly proliferative organs. Nature 1998;392:569-574.
45. Rudolph KL, Chang S, Lee HW, Blasco M, Gottlieb GJ, Greider C, DePinho RA. Longevity, stress response, and cancer in aging telomerase-deficient mice. Cell 1999;96:701-712.
46. Marciniak RA, Johnson FB, Guarente L. Dyskeratosis congenita, telomeres and human ageing. Trends Genet 2000;16:193-195.
47. Gonzalez-Suarez E, Samper E, Flores JM, Blasco MA. Telomerase-deficient mice with short telomeres are resistant to skin tumorigenesis. Nat Genet 2000;26:114-117.
48. Greenberg RA, Chin L, Femino A, Lee KH, Gottlieb GJ, Singer RH, Greider CW, DePinho RA. Short dysfunctional telomeres impair tumorigenesis in the INK4a(delta2/3) cancer-prone mouse. Cell 1999;97:515-525.
49. Rudolph KL, Millard M, Bosenberg MW, DePinho RA. Telomere dysfunction and evolution of intestinal carcinoma in mice and humans. Nat Genet 2001;28:155-159.
50. Chin L, Artandi SE, Shen Q, Tam A, Lee SL, Gottlieb GJ, Greider CW, DePinho RA. p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 1999;97:527-538.
51. Herrera E, Samper E, Martin-Caballero J, Flores JM, Lee HW, Blasco MA. Disease states associated with telomerase deficiency appear earlier in mice with short telomeres. EMBO J 1999;18:2950-2960.
52. Young NS. Immunosuppressive treatment of acquired aplastic anemia and immune-mediated bone marrow failure syndromes. Int J Hematol 2002;75:129-140.
53. Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002;359:2168-2170
54. Ball SE, Gibson FM, Rizzo S, Tooze JA, Marsh JC, Gordon-Smith EC. Progressive telomere shortening in aplastic anemia. Blood 1998;91:3582-3592.
55. Lee JJ, Kook H, Chung IJ, Na JA, Park MR, Hwang TJ, Kwak JY, Sohn SK, Kim HJ. Telomere length changes in patients with aplastic anaemia. Br J Haematol 2001;112:1025-1030.
56. Brummerdorf TH, Maciejewski JP, Mak J, Young NS, Lansdorp PM. Telomere length in leukocyte subpopulations of patients with aplastic anemia, Blood 2001;97:895-900
57. Drake JW The distribution of rates of spontaneous mutation over viruses, prokaryotes, and eukaryotes Ann N Y Acad Sci 1999;870:100-107
58. Goytisolo FA, Samper E, Martin-Caballero J, Finnon P, Herrera E, Flores JM, Bouffler SD, Blasco MA. Short telomeres result in organismal hypersensitivity to ionizing radiation in mammals. J Exp Med 2000;192:1625-1636.
59. Wong KK, et al. Telomere dysfunction impairs DNA repair and enhances sensitivity to ionizing radiation, Nat Genet 2000;26:85-88.
60. Knight SW, et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999;107:335-339.
61. Yaghmal R, Kimyai-Asadi A, Rostamiani K, Heiss NS, Poustka A, Eyaid W, Bodurtha J, Nousari HC, Hamosh A, Metzenberg A. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr 2000;136:390-393.
62. Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci 2000;1:109-115.
63. Hathcock KS, Hemann MT, Opperman KK, Strong MA, Greider CW, Hodes RJ. Haploinsufficiency of mTR results in defects in telomere elongation. Proc Natl Acad Sci USA 2002;99:3591-3596.
64. Liu Y, et al The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo. Curr Biol 2000;10:1459-1462,
65. Liu Y, Kha H, Ungrin M, Robinson MO, Harrington L, Preferential maintenance of critically short telomeres in mammalian cells heterozygous for mTert Proc Natl Acad Sci USA 2002;99:3597-3602.
66. -/- mice with short telomeres. EMBO Rep 2001;2:800-807
67. Hemann MT, Strong MA, Hao LY, Greider CW. The shortest telomere, not average telomere length, is critical for cell viability and chromosome stability Cell 2001;107:67-77,
68. Chen JL, Blasco MA, Greider CW. Secondary structure of vertebrate telomerase RNA. Cell 2000;100:503-514.
69. Mergny JL, Riou JF, Mailliet P, Teulade-Fichou MP, Gilson E Natural and pharmacological regulation of telomerase. Nucleic Acids Res 2002; 30:839-865.