La dyskératose congénitale : qui est coupable ?

Anthony Henras; Christophe Dez; Michèle Caizergues-Ferrer; Yves Henry

doi:10.1051/medsci/20031989792

Accès gratuit

Numéro		Med Sci (Paris) Volume 19, Numéro 8-9, Août-Septembre 2003


Page(s)		792 - 794
Section		Le Magazine : Nouvelles
DOI		https://doi.org/10.1051/medsci/20031989792
Publié en ligne		15 août 2003

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Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432–5. [Google Scholar]
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. [Google Scholar]
Comolli LR, Smirnov I, Xu L, Blackburn EH, James TL. A molecular switch underlies a human telomerase disease. Proc Natl Acad Sci USA 2002; 99: 16998–7003. [Google Scholar]
Ruggero D, Grisendi S, Piazza F, et al. Dyskeratosis congenita and cancer in mice deficient in ribosomique RNA modification. Science 2003; 299: 259–62. [Google Scholar]
King TH, Liu B, McCully RR, Fournier MJ. Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center. Mol Cell 2003; 11: 425–35. [Google Scholar]
Darzacq X, Jady BE, Verheggen C, Kiss AM, Bertrand E, Kiss T. Cajal body-specific small nuclear RNAs: a novel class of 2’-O- methylation and pseudouridylation guide RNAs. EMBO J 2002; 21: 2746–56. [Google Scholar]

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[1] Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 1998; 19: 32–8. [Google Scholar]

[2] 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: 527–37. [Google Scholar]

[3] 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. [Google Scholar]

[4] Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999; 402: 551–5. [Google Scholar]

[5] Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432–5. [Google Scholar]

[6] 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. [Google Scholar]

[7] Comolli LR, Smirnov I, Xu L, Blackburn EH, James TL. A molecular switch underlies a human telomerase disease. Proc Natl Acad Sci USA 2002; 99: 16998–7003. [Google Scholar]

[8] Ruggero D, Grisendi S, Piazza F, et al. Dyskeratosis congenita and cancer in mice deficient in ribosomique RNA modification. Science 2003; 299: 259–62. [Google Scholar]

[9] King TH, Liu B, McCully RR, Fournier MJ. Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center. Mol Cell 2003; 11: 425–35. [Google Scholar]

[10] Darzacq X, Jady BE, Verheggen C, Kiss AM, Bertrand E, Kiss T. Cajal body-specific small nuclear RNAs: a novel class of 2’-O- methylation and pseudouridylation guide RNAs. EMBO J 2002; 21: 2746–56. [Google Scholar]