Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia

British Journal of Haematology

Volumn 152, Issue 5, 2011, Pages 648-654

  Torihara, Hidetsugu ^a   Uechi, Tamayo ^a   Chakraborty, Anirban ^a   Shinya, Minori ^b   Sakai, Noriyoshi ^b   Kenmochi, Naoya ^a  

^a UNIVERSITY OF MIYAZAKI   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

Diamond Blackfan anaemia; Erythropoiesis; Ribosomal protein S19; Tp53; Zebrafish

Indexed keywords

PROTEIN P53; RIBOSOME PROTEIN; RIBOSOME PROTEIN S19; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; BLACKFAN DIAMOND ANEMIA; CELL CYCLE ARREST; CIRCULATION; CONTROLLED STUDY; EMBRYO; ENZYME INHIBITION; ERYTHROID CELL; ERYTHROPOIESIS; GENE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PROTEIN FUNCTION; ZEBRA FISH;

ANEMIA, DIAMOND-BLACKFAN; ANIMALS; APOPTOSIS; DISEASE MODELS, ANIMAL; ERYTHROPOIESIS; GENES, P53; RIBOSOMAL PROTEINS; RNA, MESSENGER; TUMOR SUPPRESSOR PROTEIN P53; ZEBRAFISH;

EID: 79951527307     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08535.x     Document Type: Article

References (22)

1. Ball, S.E., McGuckin, C.P., Jenkins, G. & Gordon-Smith, E.C. (1996) Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. British Journal of Haematology, 94, 645-653.
2. Barlow, J.L., Drynan, L.F., Hewett, D.R., Holmes, L.R., Lorenzo-Abalde, S., Lane, A.L., Jolin, H.E., Pannell, R., Middleton, A.J., Wong, S.H., Warren, A.J., Wainscoat, J.S., Boultwood, J. & McKenzie, A.N. (2010) A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. Nature medicine, 16, 59-66.
3. Boria, I., Quarello, P., Avondo, F., Garelli, E., Aspesi, A., Carando, A., Campagnoli, M.F., Dianzani, I. & Ramenghi, U. (2008) A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. Human Mutation, 29, E263-E270.
4. Chakraborty, A., Uechi, T., Higa, S., Torihara, H. & Kenmochi, N. (2009) Loss of ribosomal protein L11 affects zebrafish embryonic development through a p53-dependent apoptotic response. PLoS ONE, 4, e4152.
5. Danilova, N., Sakamoto, K.M. & Lin, S. (2008) Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood, 112, 5228-5237.
6. Detrich, 3rd, H.W., Kieran, M.W., Chan, F.Y., Barone, L.M., Yee, K., Rundstadler, J.A., Pratt, S., Ransom, D. & Zon, L.I. (1995) Intraembryonic hematopoietic cell migration during vertebrate development. Proceedings of the National Academy of Sciences of the United States of America, 7, 10713-10717.
7. Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B. & Dahl, N. (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nature Genetics, 21, 169-175.
8. Iadevaia, V., Caldarola, S., Biondini, L., Gismondi, A., Karlsson, S., Dianzani, I. & Loreni, F. (2010) PIM1 kinase is destabilized by ribosomal stress causing inhibition of cell cycle progression. Oncogene, 29, 5490-5499.
9. Jones, N.C., Lynn, M.L., Gaudenz, K., Sakai, D., Aoto, K., Rey, J.P., Glynn, E.F., Ellington, L., Du, C., Dixon, J., Dixon, M.J. & Trainor, P.A. (2008) Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nature Medicine, 14, 125-133.
10. Kuramitsu, M., Hamaguchi, I., Takuo, M., Masumi, A., Momose, H., Takizawa, K., Mochizuki, M., Naito, S. & Yamaguchi, K. (2008) Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. British Journal of Haematology, 140, 348-359.
11. Langheinrich, U., Hennena, E., Stotta, G. & Vacun, G. (2002) Zebrafish as a model organism for the identification and characterization of drugs and genes affecting p53 signaling. Current Biology, 12, 2023-2028.
12. Lipton, J.M. (2006) Diamond Blackfan anemia: new paradigms for a "not so pure" inherited red cell aplasia. Seminars in Hematology, 43, 167-177.
13. Lipton, J.M. & Ellis, S.R. (2010) Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. Current opinion in pediatrics, 22, 12-19.
14. MacInnes, A.W., Amsterdam, A., Whittaker, C.A., Hopkins, N. & Lees, J.A. (2008) Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations. Proceedings of the National Academy of Sciences of the United States of America, 105, 10408-10413.
15. McGowan, K.A., Li, J.Z., Park, C.Y., Beaudry, V., Tabor, H.K., Sabnis, A.J., Zhang, W., Fuchs, H., de Angelis, M.H., Myers, R.M., Attardi, L.D. & Barsh, G.S. (2008) Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nature Genetics, 40, 963-970.
16. Miyake, K., Utsugisawa, T., Flygare, J., Kiefer, T., Hamaguchi, I., Richter, J. & Karlsson, S. (2008) Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia. Stem Cells, 26, 323-329.
17. North, T.E., Goessling, W., Peeters, M., Li, P., Ceol, C., Lord, A.M., Weber, G.J., Harris, J., Cutting, C.C., Huang, P., Dzierzak, E. & Zon, L.I. (2009) Hematopoietic stem cell development is dependent on blood flow. Cell, 137, 736-748.
18. Sieff, C.A., Yang, J., Merida-Long, L.B. & Lodish, H.F. (2010) Pathogenesis of the erythroid failure in Diamond Blackfan anaemia. British Journal of Haematology, 148, 611-622.
19. Uechi, T., Nakajima, Y., Nakao, A., Torihara, H., Chakraborty, A., Inoue, K. & Kenmochi, N. (2006) Ribosomal protein gene knockdown causes developmental defects in zebrafish. PLoS ONE, 1, e37.
20. Uechi, T., Nakajima, Y., Chakraborty, A., Torihara, H., Higa, S. & Kenmochi, N. (2008) Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. Human Molecular Genetics, 17, 3204-3211.
21. Willig, T.N., Draptchinskaia, N., Dianzani, I., Ball, S., Niemeyer, C., Ramenghi, U., Orfali, K., Gustavsson, P., Garelli, E., Brusco, A., Tiemann, C., Pérignon, J.L., Bouchier, C., Cicchiello, L., Dahl, N., Mohandas, N. & Tchernia, G. (1999) Mutations in ribosomal protein S19 gene and diamond Blackfan anemia: wide variations in phenotypic expression. Blood, 94, 4294-4306.
22. Zhang, Y. & Lu, H. (2009) Signaling to p53: ribosomal proteins find their way. Cancer Cell, 16, 369-377.