Diamond Blackfan anemia: Ribosomal proteins going rogue

Seminars in Hematology

Volumn 48, Issue 2, 2011, Pages 89-96

  Ellis, Steven R ^a   Gleizes, Pierre Emmanuel ^b,c  

^a UNIVERSITY OF LOUISVILLE   (United States)

^b Université Paul Sabatier   (France)

^c CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; RIBOSOME PROTEIN; RIBOSOME RNA; RNA PRECURSOR;

ARTICLE; BIOGENESIS; BLACKFAN DIAMOND ANEMIA; CANCER SUSCEPTIBILITY; CELL STRESS; DISEASE COURSE; ERYTHROPOIESIS; GENE INTERACTION; GENE MUTATION; HAPLOTYPE; HEMATOPOIETIC STEM CELL; HUMAN; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOLUS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN INTERACTION; PROTEIN SYNTHESIS; RIBOSOME; RPS19 GENE; SIGNAL TRANSDUCTION;

ANEMIA, DIAMOND-BLACKFAN; ANIMALS; HUMANS; MUTATION; RIBOSOMAL PROTEINS;

EID: 79952770962     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2011.02.005     Document Type: Article

References (55)

1. Lipton J.M., Ellis S.R. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am 2009, 23:261-282.
2. Doherty L., Sheen M.R., Vlachos A. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet 2010, 86:222-228.
3. Farrar J.E., Nater M., Caywood E., et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008, 112:1582-1592.
4. Gazda H.T., Grabowska A., Merida-Long L.B., et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006, 79:1110-1118.
5. Gazda H.T., Sheen M.R., Vlachos A., et al. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 2008, 83:769-780.
6. Cmejla R., Cmejlova J., Handrkova H., Petrak J., Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum Mutat 2007, 28:1178-1182.
7. Noller HF. Evolution of protein synthesis from an RNA world. Cold Spring Harb Perspect Biol. published online July 7, 2010. doi:10.1101/cshperspect.a003681.
8. Holmes K.L., Culver G.M. Mapping structural differences between 30S ribosomal subunit assembly intermediates. Nat Struct Mol Biol 2004, 11:179-186.
9. Ferreira-Cerca S., Poll G., Gleizes P.E., Tschochner H., Milkereit P. Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function. Mol Cell 2005, 20:263-275.
10. Leger-Silvestre I., Caffrey J.M., Dawaliby R., et al. Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis. J Biol Chem 2005, 280:38177-38185.
11. Flygare J., Aspesi A., Bailey J.C., et al. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 2007, 109:980-986.
12. Choesmel V., Bacqueville D., Rouquette J., et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 2007, 109:1275-1283.
13. Idol R.A., Robledo S., Du H.Y., et al. Cells depleted for RPS19, a protein associated with Diamond Blackfan anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. Blood Cells Mol Dis 2007, 39:35-43.
14. Choesmel V., Fribourg S., Aguissa-Toure A.H., et al. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum Mol Genet 2008, 17:1253-1263.
15. Boria I., Quarello P., Avondo F., et al. A new database for ribosomal protein genes which are mutated in Diamond-Blackfan anemia. Hum Mutat 2008, 29:E263-E270.
16. Campagnoli M.F., Ramenghi U., Armiraglio M., et al. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat 2008, 29:911-920.
17. Gregory L.A., Aguissa-Toure A.H., Pinaud N., Legrand P., Gleizes P.E., Fribourg S. Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. Nucleic Acids Res 2007, 35:5913-5921.
18. Cretien A., Hurtaud C., Moniz H., et al. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia. Haematologica 2008, 93:1627-1634.
19. Angelini M., Cannata S., Mercaldo V., et al. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum Mol Genet 2007, 16:1720-1727.
20. Poll G., Braun T., Jakovljevic J., et al. rRNA maturation in yeast cells depleted of large ribosomal subunit proteins. PLoS One 2009, 4:e8249.
21. Robledo S., Idol R.A., Crimmins D.L., Ladenson J.H., Mason P.J., Bessler M. The role of human ribosomal proteins in the maturation of rRNA and ribosome production. RNA 2008, 14:1918-1929.
22. O'Donohue M.F., Choesmel V., Faubladier M., Fichant G., Gleizes P.E. Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. J Cell Biol. 2010, 190:853-866.
23. Ebert B.L., Pretz J., Bosco J., et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature 2008, 451:335-339.
24. Marygold S.J., Roote J., Reuter G., et al. The ribosomal protein genes and Minute loci of Drosophila melanogaster. Genome Biol 2007, 8:R216.
25. Flygare J., Karlsson S. Diamond-Blackfan anemia: erythropoiesis lost in translation. Blood 2007, 109:3152-3154.
26. Schultz J. The Minute reaction in the development of Drosophila melanogaster. Genetics 1929, 14:366-419.
27. Danilova N., Sakamoto K.M., Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood 2008, 112:5228-5237.
28. Uechi T., Nakajima Y., Chakraborty A., Torihara H., Higa S., Kenmochi N. Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. Hum Mol Genet 2008, 17:3204-3211.
29. Lai K., Amsterdam A., Farrington S., Bronson R.T., Hopkins N., Lees J.A. Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish. Dev Dyn 2009, 238:76-85.
30. MacInnes A.W., Amsterdam A., Whittaker C.A., Hopkins N., Lees J.A. Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations. Proc Natl Acad Sci U S A 2008, 105:10408-10413.
31. Caldarola S., De Stefano M.C., Amaldi F., Loreni F. Synthesis and function of ribosomal proteins-fading models and new perspectives. FEBS J 2009, 276:3199-3210.
32. Anderson S.J., Lauritsen J.P., Hartman M.G., et al. Ablation of ribosomal protein L22 selectively impairs alphabeta T cell development by activation of a p53-dependent checkpoint. Immunity 2007, 26:759-772.
33. Kirn-Safran C.B., Oristian D.S., Focht R.J., Parker S.G., Vivian J.L., Carson D.D. Global growth deficiencies in mice lacking the ribosomal protein HIP/RPL29. Dev Dyn 2007, 236:447-460.
34. Matsson H., Davey E.J., Draptchinskaia N., et al. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol 2004, 24:4032-4037.
35. McGowan K.A., Li J.Z., Park C.Y., et al. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet 2008, 40:963-970.
36. Devlin E.E., Dacosta L., Mohandas N., Elliott G., Bodine D.M. A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia. Blood 2010, 116:2826-2835.
37. Oliver E.R., Saunders T.L., Tarle S.A., Glaser T. Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute. Development 2004, 131:3907-3920.
38. Panic L., Tamarut S., Sticker-Jantscheff M., et al. Ribosomal protein S6 gene haploinsufficiency is associated with activation of a p53-dependent checkpoint during gastrulation. Mol Cell Biol 2006, 26:8880-8891.
39. Zhang Y., Lu H. Signaling to p53: ribosomal proteins find their way. Cancer Cell 2009, 16:369-377.
40. Fumagalli S., Di Cara A., Neb-Gulati A., et al. Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction. Nat Cell Biol 2009, 11:501-508.
41. Dai M.S., Zeng S.X., Jin Y., Sun X.X., David L., Lu H. Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition. Mol Cell Biol 2004, 24:7654-7668.
42. Chen D., Zhang Z., Li M., et al. Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function. Oncogene 2007, 26:5029-5037.
43. Yadavilli S., Mayo L.D., Higgins M., Lain S., Hegde V., Deutsch W.A. Ribosomal protein S3: A multi-functional protein that interacts with both p53 and MDM2 through its KH domain. DNA Repair (Amst) 2009, 8:1215-1224.
44. Takagi M., Absalon M.J., McLure K.G., Kastan M.B. Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin. Cell 2005, 123:49-63.
45. Perdahl E.B., Naprstek B.L., Wallace W.C., Lipton J.M. Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 1994, 83:645-650.
46. Barna M., Pusic A., Zollo O., et al. Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency. Nature 2008, 456:971-975.
47. Macias E., Jin A., Deisenroth C. An ARF-independent c-MYC-activated tumor suppression pathway mediated by ribosomal protein-Mdm2 Interaction. Cancer Cell 2010, 18:231-243.
48. Da Costa L., Narla G., Willig T.N., et al. Ribosomal protein S19 expression during erythroid differentiation. Blood 2003, 101:318-324.
49. Sulic S., Panic L., Barkic M., Mercep M., Uzelac M., Volarevic S. Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response. Genes Dev 2005, 19:3070-3082.
50. Juban G., Giraud G., Guyot B., et al. Spi-1 and Fli-1 directly activate common target genes involved in ribosome biogenesis in Friend erythroleukemic cells. Mol Cell Biol 2009, 29:2852-2864.
51. Terada M., Marks P.A., Rifkind R.A. Erythroid cell differentiation. Mol Cell Biochem 1978, 21:33-41.
52. Keel S.B., Doty R.T., Yang Z., et al. A heme export protein is required for red blood cell differentiation and iron homeostasis. Science 2008, 319:825-828.
53. Quigley J.G., Yang Z., Worthington M.T., et al. Identification of a human heme exporter that is essential for erythropoiesis. Cell 2004, 118:757-766.
54. Trainor P.A., Dixon J., Dixon M.J. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009, 17:275-283.
55. Jones N.C., Lynn M.L., Gaudenz K., et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008, 14:125-133.