Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

American Journal of Human Genetics

Volumn 79, Issue 6, 2006, Pages 1110-1118

  Gazda, Hanna T ^a,b,c   Grabowska, Agnieszka ^b   Merida Long, Lilia B ^b   Latawiec, Elzbieta ^b   Schneider, Hal E ^a   Lipton, Jeffrey M ^d   Vlachos, Adrianna ^d   Atsidaftos, Eva ^d   Ball, Sarah E ^e   Orfali, Karen A ^e   Niewiadomska, Edyta ^f   Da Costa, Lydie ^g   Tchernia, Gil ^h   Niemeyer, Charlotte ⁱ   Meerpohl, Joerg J ⁱ   Stahl, Joachim ^j   Schratt, Gerhard ^a,c,k   Glader, Bertil ^l,m   Backer, Karen ^m   Wong, Carolyn ^m   Nathan, David G ^a,b   Beggs, Alan H ^a,c   Sieff, Colin A ^a,b,c   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f MEDICAL UNIVERSITY OF WARSAW   (Poland)

^g INSERM   (France)

^h BICÊTRE HOSPITAL   (France)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^k UNIVERSITY OF HEIDELBERG   (Germany)

^l STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m STANFORD UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOME PROTEIN; RIBOSOME PROTEIN S19; RIBOSOME PROTEIN S24; UNCLASSIFIED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; BONE MARROW; CHROMOSOME 10; CONGENITAL MALFORMATION; CONTROLLED STUDY; ERYTHROBLASTOPENIA; ERYTHROCYTE APLASIA; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RIBOSOMAL PROTEIN S24 GENE; RIBOSOME; RNA SPLICING;

EID: 33845303558     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/510020     Document Type: Article

References (24)

1. Alter BP, Young NS (1998) The bone marrow failure syndromes. In: Nathan DG, Orkin HS (eds) Hematology of infancy and childhood. Vol 1. Saunders, Philadelphia, pp 237-335
2. Janov AJ, Leong T, Nathan DG, Guinan EC (1996) Diamond-Blackfan anemia: natural history and sequelae of treatment. Medicine 75:77-78
3. Lipton JM, Federman N, Khabbaze Y, Schwartz CL, Hilliard LM, Clark JI, Vlachos A (2001) Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. J Pediatr Hematol Oncol 23:39-44
4. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC (1996) Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 94:645-653
5. Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J, Lambiliotte A, Kohne E, Souillet G, Eber S, Stephan JL, Girot R, Bordigoni P, Cornu G, Blanche S, Guillard JM, Mohandas N, Tchernia G (1999) Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients: DBA group of Societe d'Hématologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 46:553-561
6. Vlachos A, Klein GW, Lipton JM (2001) The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol 23:377-382
7. Glader BE, Backer K, Diamond LK (1983) Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med 309:1486-1490
8. Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, 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. Nat Genet 21:169-175
9. Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH, Sieff CA (2004) RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol 127:105-113
10. Orfali KA, Ohene-Abuakwa Y, Ball SE (2004) Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. Br J Haematol 125:243-252
11. Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, Orfali K, Gustavsson P, Garelli E, Brusco A, Tiemann C, Perignon JL, 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
12. Leger-Silvestre I, Caffrey JM, Dawaliby R, Alvarez-Arias DA, Gas N, Bertolone SJ, Gleizes PE, Ellis SR (2005) Specific role for yeast homologs of the Diamond Blackfan anemia associated Rps19 protein in ribosome synthesis. J Biol Chem 280:38177-38185
13. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
14. Xu WB, Roufa DJ (1996) The gene encoding human ribosomal protein S24 and tissue-specific expression of differentially spliced mRNAs. Gene 169:257-262
15. Xu L, He GP, Li A, Ro HS (1994) Molecular characterization of the mouse ribosomal protein S24 multigene family: a uniquely expressed intron-containing gene with cell-specific expression of three alternatively spliced mRNAs. Nucleic Acids Res 22:646-655
16. Da Costa L, Narla G, Willig TN, Peters LL, Parra M, Fixler J, Tchernia G, Mohandas N (2003) Ribosomal protein S19 expression during erythroid differentiation. Blood 101:318-324
17. Mager WH, Planta RJ (1991) Coordinate expression of ribosomal protein genes in yeast as a function of cellular growth rate. Mol Cell Biochem 104:181-187
18. Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH (2006) Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells 24:2034-2044
19. Lykke-Andersen J, Shu MD, Steitz JA (2001) Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 293:1836-1839
20. Lutsch G, Stahl J, Kargel HJ, Noll F, Bielka H (1990) Immunoelectron microscopic studies on the location of ribosomal proteins on the surface of the 40S ribosomal subunit from rat liver. Eur J Cell Biol 51:140-150
21. Gorenstein C, Warner JR (1976) Coordinate regulation of the synthesis of eukaryotic ribosomal proteins. Proc Natl Acad Sci USA 73:1547-1551
22. Nomura M (1999) Regulation of ribosome biosynthesis in Escherichia coli and Saccharomyces cerevisiae: diversity and common principles. J Bacteriol 181:6857-6864
23. Schratt GM, Nigh EA, Chen WG, Hu L, Greenberg ME (2004) BDNF regulates the translation of a select group of mRNAs by a mammalian target of rapamycin-phosphatidylinositol 3-kinase-dependent pathway during neuronal development. J Neurosci 24:7366-7377
24. Cmejla R, Blafkova J, Stopka T, Jelinek J, Petrtylova K, Pospisilova D (2001) Ribosomal proteins S3a, S13, S16, and S24 are not mutated in patients with Diamond-Blackfan anemia. Blood 97:579-580