Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation

Cell Cycle

Volumn 4, Issue 4, 2005, Pages 578-582

  Cerone, Maria Antonietta ^a,b   Ward, Ryan J ^a,b   Londoño Vallejo, J Arturo ^c   Autexier, Chantal ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c INSTITUT CURIE   (France)

Author keywords

Dyskeratosis congenita; Human diseases; Telomerase; Telomeres

Indexed keywords

DYSKERIN; RNA; TELOMERASE;

ARTICLE; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PROTEIN PROTEIN INTERACTION; TELOMERE;

EID: 25444519237     PISSN: 15384101     EISSN: 15514005     Source Type: Journal    
DOI: 10.4161/cc.4.4.1586     Document Type: Article

References (47)

1. Marrone A, Mason PJ. Dyskeratosis congenita. Cell Mol Life Sci 2003; 60:507-17.
2. Dokal I, Vulliamy T. Dyskeratosis congenita: Its link to telomerase and aplastic anaemia. Blood Rev 2003; 17:217-25.
3. 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; 19:32-8.
4. Filipowicz W, Pogacic V. Biogenesis of small nucleolar ribonucleoproteins. Curr Opin Cell Biol 2002; 14:319-27.
5. Kiss T. Small nucleolar RNAs: An abundant group of noncoding RNAs with diverse cellular functions. Cell 2002; 109:145-8.
6. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999; 402:551-5.
7. 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; 20:3037-48.
8. Pogacic V, Dragon F, Filipowicz W. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Mol Cell Biol 2000; 20:9028-40.
9. Weinrich SL, Pruzan R, Ma L, Ouellette M, Tesmer VM, Holt SE, Bodnar AG, Lichtsteiner S, Kim NW, Trager JB, Taylor RD, Carlos R, Andrews WH, Wright WE, Shay JW, Harley CB, Morin GB. Reconstitution of human telomerase with the template RNA component hTR and the catalytic protein subunit hTRT. Nat Genet 1997; 17:498-502.
10. Beattie TL, Zhou W, Robinson MO, Harrington L. Reconstitution of human telomerase activity in vitro. Curr Biol 1998; 8:177-80.
11. Nugent CI, Lundblad V. The telomerase reverse transcriptase: Components and regulation. Genes & Dev 1998; 12:1073-85.
12. Smogorzewska A, De Lange T. Regulation of telomerase by telomeric proteins. Annu Rev Biochem 2004; 73:177-208.
13. Collins K. Mammalian telomeres and telomerase. Curr Opin Cell Biol 2000; 12:378-383.
14. Masutomi K, Yu EY, Khurts S, Ben-Porath I, Currier JL, Metz GB, Brooks MW, Kaneko S, Murakami S, DeCaprio JA, Weinberg RA, Stewart SA, Hahn WC. Telomerase maintains telomere structure in normal human cells. Cell 2003; 114:241-53.
15. Vulliamy TJ, Knight SW, Mason PJ, Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001; 27:353-7.
16. 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; 413:432-5.
17. Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C, Pandolfi PP. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003; 299:259-62.
18. Mochizuki Y, He J, Kulkarni S, Bessler M, Mason PJ. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci USA 2004; 101:10756-61.
19. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004; 36:447-9.
20. Chen J-L, Blasco MA, Greider CW. Secondary structure of vertebrate telomerase RNA. Cell 2000; 100:503-514.
21. Chen JL, Greider CW. Telomerase RNA structure and function: Implications for dyskeratosis congenita. Trends Biochem Sci 2004; 29:183-92.
22. Mitchell JR, Collins K. Human telomerase activation requires two independent interactions between telomerase RNA and telomerase reverse transcriptase. Mol Cell 2000; 6:361-71.
23. Chen J-L, Opperman KK, Greider CW. A critical stem-loop structure in the CR4-CR5 domain of mammalian telomerase RNA. Nucl Acids Res 2002; 30:592-7.
24. Fu D, Collins K. Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol Cell 2003; 11:1361-72.
25. 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; 19:567-76.
26. Ren X, Gavory G, Li H, Ying L, Klenerman D, Balasubramanian S. Identification of a new RNA. RNA interaction site for human telomerase RNA (hTR): Structural implications for hTR accumulation and a dyskeratosis congenita point mutation. Nucleic Acids Res 2003; 31:6509-15.
27. Moriarty TJ, Marie-Egyptienne DT, Autexier C. Functional organization of repeat addition processivity and DNA synthesis determinants in the human telomerase multimer. Mol Cell Biol 2004; 24:3720-33.
28. Ly H, Xu L, Rivera MA, Parslow TG, Blackburn EH. A role for a novel trans-pseudoknot' RNA-RNA interaction in the functional dimerization of human telomerase. Genes & Dev 2003; 17:1078-83.
29. Chen J-L, Greider CW. Determinants in mammalian telomerase RNA that mediate enzyme processivity and cross-species incompatibility. EMBO J 2003; 22:304-14.
30. 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; 99:3591-6.
31. Martin-Rivera L, Blasco MA. Identification of functional domains and dominant negative mutations in vertebrate telomerase RNA using an in vivo reconstitution system. J Biol Chem 2001; 276:5856-65.
32. Wenz C, Enenkel B, Amacker M, Kelleher C, Damm K, Lingner J. Human telomerase contains two cooperating telomerase RNA molecules. EMBO J 2001; 20:3526-34.
33. Beattie TL, Zhou W, Robinson MO, Harrington L. Functional multimerization of the human telomerase reverse transcriptase. Mol Cell Biol 2001; 21:6151-60.
34. Moriarty T, Huard S, Dupuis S, Autexier C. Functional multimerization of human telomerase requires an RNA interaction domain in the N-terminus of the catalytic subunit. Mol Cell Biol 2002; 22:1253-65.
35. Erdmann N, Liu Y, Harrington L. Distinct dosage requirements for the maintenance of long and short telomeres in mTert heterozygous mice. Proc Natl Acad Sci USA 2004; 101:6080-5.
36. Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 2004; In press.
37. Counter CM, Avilion AA, LeFeuvre CE, Stewart NG, Greider CW, Harley CB, Bacchetti S. Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity. EMBO J 1992; 11:1921-9.
38. Park KH, Rha SY, Kim CH, Kim TS, Yoo NC, Kim JH, Roh JK, Noh SH, Min JS, Lee KS, Kim B, Chung HC. Telomerase activity and telomere lengths in various cell lines: Changes in telomerase activity can be another method for chemosensitivity evaluation. Int J Oncol 1998; 13:489-95.
39. Guiducci C, Cerone MA, Bacchetti S. Expression of mutant telomerase in immortal telomerase-negative human cells results in cell cycle deregulation, nuclear and chromosomal abnormalities and rapid loss of viability. Oncogene 2001; 20:714-25.
40. Kim NW, Piatyszek MA, Prowse KR, Harley CB, West MD, Ho PLC, Coviello GM, Wright WE, Weinrich SL, Shay JW. Specific association of human telomerase activity with immortal cells and cancer. Science 1994; 266:2011-5.
41. Bryan TM, Englezou A, Gupta J, Bacchetti S, Reddel RR. Telomere elongation in immortal human cells without detectable telomerase activity. EMBO J 1995; 14:4240-8.
42. Cerone MA, Londono-Vallejo JA, Bacchetti S. Telomere maintenance by telomerase and by recombination can coexist in human cells. Hum Mol Genet 2001; 10:1945-52.
43. Perrem K, Colgin LM, Neumann AA, Yeager TR, Reddel RR. Coexistence of alternative lengthening of telomeres and telomerase in hTERT-transfected GM847 cells. Mol Cell Biol 2001; 21:3826-75.
44. Grobelny JV, Kulp-McEliece M, Broccoli D. Effects of reconstitution of telomerase activity on telomere maintenanceby the alternative lengthening of telomeres (ALT) pathway. Hum Mol Genet 2001; 10:1953-61.
45. Comolli LR, Smirnov I, Xu L, Blackburn EH, James TL. A molecular switch underlies a human telomerase disease. Proc Natl Acad Sci USA 2003; 99:16998-7003.
46. Theimer CA, Finger LD, Trantirek L, Feigon J. Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. Proc Natl Acad Sci USA 2003; 100:449-54.
47. Theimer CA, Finger LD, Feigon J. YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. Rna 2003; 9:1446-55.