Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome

Human Molecular Genetics

Volumn 16, Issue 14, 2007, Pages 1720-1727

  Angelini, Mara ^a   Cannata, Stefano ^a   Mercaldo, Valentina ^a,b   Gibello, Luisa ^c   Santoro, Claudio ^c   Dianzani, Irma ^c   Loreni, Fabrizio ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^c UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PROTEIN S19; RIBOSOME PROTEIN; RNA 18S; UNCLASSIFIED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENE EXPRESSION; GENE INSERTION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOLUS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STABILITY; STOP CODON;

ANEMIA, DIAMOND-BLACKFAN; CELL LINE; CENTRIFUGATION, DENSITY GRADIENT; DNA, COMPLEMENTARY; GENE EXPRESSION REGULATION; HELA CELLS; HUMANS; MODELS, BIOLOGICAL; MUTATION; MUTATION, MISSENSE; PROTEINS; RIBOSOMAL PROTEINS; RIBOSOMES; SUBCELLULAR FRACTIONS; SUCROSE;

EID: 34547742640     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm120     Document Type: Article

References (29)

1. Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H. et al. (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat. Genet., 21, 169-175.
2. Ramenghi, U., Campagnoli, M.F., Garelli, E., Carando, A., Brusco, A., Bagnara, G.P., Strippoli, P., Izzi, G.C., Brandalise, S., Riccardi, R. et al. (2000) Diamond-Blackfan anemia: Report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. Blood Cells. Mol. Dis., 26, 417-422.
3. Willig, T.N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A. et al. (1999) Mutations in ribosomal protein S19 gene and diamond blackfan anemia: Wide variations in phenotypic expression. Blood, 94, 4294-4306.
4. Campagnoli, M.F., Garelli, E., Quarello, P., Carando, A., Varotto, S., Nobili, B., Longoni, D., Pecile, V., Zecca, M., Dufour, C. et al. (2004) Molecular basis of Diamond-Blackfan anemia: New findings from the Italian registry and a review of the literature. Haematologica, 89, 480-489.
5. Ball, S.E., McGuckin, C.P., Jenkins, G. and Gordon-Smith, E.C. (1996) Diamond-Blackfan anaemia in the U.K.: Analysis of 80 cases from a 20-year birth cohort. Br. J. Haematol., 94, 645-653.
6. Halperin, D.S. and Freedman, M.H. (1989) Diamond-Blackfan anemia: etiology, pathophysiology, and treatment. Am. J. Pediatr. Hematol. Oncol., 11, 380-394.
7. Flygare, J. and Karlsson, S. (2006) Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood, 109, 3152-3154.
8. Nishiura, H., Shibuya, Y., Matsubara, S., Tanase, S., Kambara, T. and Yamamoto, T. (1996) Monocyte chemotactic factor in rheumatoid arthritis synovial tissue. Probably a cross-linked derivative of S19 ribosomal protein. J. Biol. Chem., 271, 878-882.
9. Gazda, H.T., Grabowska, A., Merida-Long, L.B., Latawiec, E., Schneider, H.E., Lipton, J.M., Vlachos, A., Atsidaftos, E., Ball, S.E., Orfali, K.A. et al. (2006) Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet., 79, 1110-1118.
10. Orru, S., Aspesi, A., Armiraglio, M., Caterino, M., Loreni, F., Ruoppolo, M., Santoro, C. and Dianzani, I. (2006) Analysis of RPS19's interactome. Mol Cell Proteomics, 6, 382-393.
11. Liu, J.M. and Ellis, S.R. (2006) Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood, 107, 4583-4588.
12. Cmejlova, J., Dolezalova, L., Pospisilova, D., Petrtylova, K., Petrak, J. and Cmejla, R. (2006) Translational efficiency in patients with Diamond-Blackfan anemia. Haematologica, 91, 1456-1464.
13. Chiocchetti, A., Gibello, L., Carando, A., Aspesi, A., Secco, P., Garelli, E., Loreni, F., Angelini, M., Biava, A., Dahl, N. et al. (2005) Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. Haematologica, 90, 1453-1462.
14. Chen, W.W., Chan, D.C., Donald, C., Lilly, M.B. and Kraft, A.S. (2005) Pim family kinases enhance tumor growth of prostate cancer cells. Mol. Cancer Res., 3, 443-451.
15. Fox, C.J., Hammerman, P.S. and Thompson, C.B. (2005) The Pim kinases control rapamycin-resistant T cell survival and activation. J. Exp. Med., 201, 259-266.
16. Matsson, H., Davey, E.J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Leveen, P., Forsberg, E., Karlsson, S. and Dahl, N. (2004) Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol. Cell. Biol., 24, 4032-4037.
17. Miyake, K., Flygare, J., Kiefer, T., Utsugisawa, T., Richter, J., Ma, Z., Wiznerowicz, M., Trono, D. and Karlsson, S. (2005) Development of cellular models for ribosomal protein S19 (RPS19)-deficient Diamond-Blackfan anemia using inducible expression of siRNA against RPS19. Mol. Ther., 11, 627-637.
18. Ferreira-Cerca, S., Poll, G., Gleizes, P.E., Tschochner, H. and Milkereit, P. (2005) Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function. Mol. Cell, 20, 263-275.
19. Leger-Silvestre, I., Caffrey, J.M., Dawaliby, R., Alvarez-Arias, D.A., Gas, N., Bertolone, S.J., Gleizes, P.E. and Ellis, S.R. (2005) Specific role for yeast homologs of the Diamond-Blackfan anemia-associated Rps19 protein in ribosome synthesis. J. Biol. Chem., 280, 38177-38185.
20. Flygare, J., Kiefer, T., Miyake, K., Utsugisawa, T., Hamaguchi, I., Da Costa, L., Richter, J., Davey, E.J., Matsson, H., Dahl, N. et al. (2005) Deficiency of ribosomal protein S19 in CD34 cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Blood, 105, 4627-4634.
21. Flygare, J., Aspesi, A., Bailey, J.C., Miyake, K., Caffrey, J.M., Karlsson, S. and Ellis, S. (2007) Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood, 109, 980-986.
22. Chatr-Aryamontri, A., Angelini, M., Garelli, E., Tchernia, G., Ramenghi, U., Dianzani, I. and Loreni, F. (2004) Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. Hum. Mutat., 24, 526-533.
23. Gazda, H.T., Zhong, R., Long, L., Niewiadomska, E., Lipton, J.M., Ploszynska, A., Zaucha, J.M., Vlachos, A., Atsidaftos, E., Viskochil, D.H. et al. (2004) RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br. J. Haematol., 127, 105-113.
24. Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.A., Fixler, J. and Mohandas, N. (2003) Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: Potential insights into pathophysiology. Blood, 101, 5039-5045.
25. Fatica, A. and Tollervey, D. (2002) Making ribosomes. Curr. Opin. Cell Biol., 14, 313-318.
26. Fromont-Racine, M., Senger, B., Saveanu, C. and Fasiolo, F. (2003) Ribosome assembly in eukaryotes. Gene, 313, 17-42.
27. Choesmel, V., Bacqueville, D., Rouquette, J., Noaillac-Depeyre, J., Fribourg, S., Cretien, A., Leblanc, T., Tchernia, G., Dacosta, L. and Gleizes, P.E. (2006) Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood, 109, 1275-1283.
28. Bonuccelli, G., Sotgia, F., Schubert, W., Park, D.S., Frank, P.G., Woodman, S.E., Insabato, L., Cammer, M., Minetti, C. and Lisanti, M.P. (2003) Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins. Am. J. Pathol., 163, 1663-1675.
29. den Dunnen, J.T. and Antonarakis, S.E. (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum. Mutat., 15, 7-12.