Erratum: Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia (DOI:10.1016/j.ajhg.2009.12.015);Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 222-228

  Doherty, Leana ^a   Sheen, Mee Rie ^a   Vlachos, Adrianna ^b,c   Choesmel, Valerie ^d,e   O'Donohue, Marie Françoise ^d,e   Clinton, Catherine ^a   Schneider, Hal E ^a   Sieff, Colin A ^f,g   Newburger, Peter E ^h   Ball, Sarah E ⁱ   Niewiadomska, Edyta ^j   Matysiak, Michal ^j   Glader, Bertil ^k   Arceci, Robert J ^l   Farrar, Jason E ^l   Atsidaftos, Eva ^b,c   Lipton, Jeffrey M ^b,c   Gleizes, Pierre Emmanuel ^d,e   Gazda, Hanna T ^a,g  

^a Manton Center for Orphan Disease Research   (United States)

^b FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d Université Paul Sabatier   (France)

^e CNRS   (France)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

ⁱ ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^j MEDICAL UNIVERSITY OF WARSAW   (Poland)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l JOHNS HOPKINS UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR PROTEIN; PROTEIN S 26; PROTEIN S6; RIBOSOME PROTEIN; RIBOSOME PROTEIN L10A; RIBOSOME PROTEIN L12; RIBOSOME PROTEIN L15; RIBOSOME PROTEIN L21; RIBOSOME PROTEIN L24; RIBOSOME PROTEIN L27A; RIBOSOME PROTEIN L29; RIBOSOME PROTEIN L32; RIBOSOME PROTEIN L34; RIBOSOME PROTEIN L37; RIBOSOME PROTEIN L41; RIBOSOME PROTEIN L6; RIBOSOME PROTEIN L7A; RIBOSOME PROTEIN L9; RIBOSOME PROTEIN LP0; RIBOSOME PROTEIN LP2; RIBOSOME PROTEIN S10; RIBOSOME PROTEIN S12; RIBOSOME PROTEIN S14; RIBOSOME PROTEIN S18; RIBOSOME PROTEIN S23; RIBOSOME PROTEIN S25; RIBOSOME PROTEIN S3; RIBOSOME PROTEIN S30; STEROID; UNCLASSIFIED DRUG; UNINDEXED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; CLINICAL TRIAL; COHORT ANALYSIS; CONTROLLED STUDY; ERYTHROCYTE TRANSFUSION; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HELA CELL; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA ANALYSIS;

EID: 76049086340     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.03.008     Document Type: Erratum

References (27)

1. Alter B.P., and Young N.S. The bone marrow failure syndromes. In: Nathan D.G., and Orkin H.S. (Eds). Hematology of Infancy and Childhood Volume 1 (1998), Saunders, Philadelphia 237-335
2. Willig T.N., Niemeyer C.M., Leblanc T., Tiemann C., Robert A., Budde J., Lambiliotte A., Kohne E., Souillet G., Eber S., et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr. Res. 46 (1999) 553-561
3. Orfali K.A., Ohene-Abuakwa Y., and Ball S.E. Diamond Blackfan anaemia in the UK: Clinical and genetic heterogeneity. Br. J. Haematol. 125 (2004) 243-252
4. Lipton J.M., Atsidaftos E., Zyskind I., and Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry. Pediatr. Blood Cancer 46 (2006) 558-564
5. Janov A.J., Leong T., Nathan D.G., and Guinan E.C. Diamond-Blackfan anemia. Natural history and sequelae of treatment. Medicine (Baltimore) 75 (1996) 77-78
6. Vlachos A., Klein G.W., and Lipton J.M. The Diamond Blackfan Anemia Registry: Tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J. Pediatr. Hematol. Oncol. 23 (2001) 377-382
7. Glader B.E., and Backer K. Elevated red cell adenosine deaminase activity: A marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br. J. Haematol. 68 (1988) 165-168
8. Willig T.N., Draptchinskaia N., Dianzani I., Ball S., Niemeyer C., Ramenghi U., Orfali K., Gustavsson P., Garelli E., Brusco A., et al. Mutations in ribosomal protein S19 gene and diamond blackfan anemia: Wide variations in phenotypic expression. Blood 94 (1999) 4294-4306
9. Vlachos A., Ball S., Dahl N., Alter B.P., Sheth S., Ramenghi U., Meerpohl J., Karlsson S., Liu J.M., Leblanc T., et al., Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference. Br. J. Haematol. 142 (2008) 859-876
10. Ball S.E., McGuckin C.P., Jenkins G., and Gordon-Smith E.C. Diamond-Blackfan anaemia in the U.K.: Analysis of 80 cases from a 20-year birth cohort. Br. J. Haematol. 94 (1996) 645-653
11. Campagnoli M.F., Garelli E., Quarello P., Carando A., Varotto S., Nobili B., Longoni D., Pecile V., Zecca M., Dufour C., et al. Molecular basis of Diamond-Blackfan anemia: New findings from the Italian registry and a review of the literature. Haematologica 89 (2004) 480-489
12. Draptchinskaia N., Gustavsson P., Andersson B., Pettersson M., Willig T.N., Dianzani I., Ball S., Tchernia G., Klar J., Matsson H., et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat. Genet. 21 (1999) 169-175
13. 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. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 79 (2006) 1110-1118
14. Cmejla R., Cmejlova J., Handrkova H., Petrak J., and Pospisilova D. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. Hum. Mutat. 28 (2007) 1178-1182
15. Farrar J.E., Nater M., Caywood E., McDevitt M.A., Kowalski J., Takemoto C.M., Talbot Jr. C.C., Meltzer P., Esposito D., Beggs A.H., et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 112 (2008) 1582-1592
16. Gazda H.T., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.F., Schneider H., Darras N., Hasman C., Sieff C.A., Newburger P.E., 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. 83 (2008) 769-780
17. Léger-Silvestre I., Caffrey J.M., Dawaliby R., Alvarez-Arias D.A., Gas N., Bertolone S.J., Gleizes P.E., and Ellis S.R. Specific role for yeast homologs of the diamond blackfan anemia associated Rps19 protein in ribosome synthesis. J. Biol. Chem. 280 (2005) 38177-38185
18. Choesmel V., Bacqueville D., Rouquette J., Noaillac-Depeyre J., Fribourg S., Crétien A., Leblanc T., Tchernia G., Da Costa L., and Gleizes P.E. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109 (2007) 1275-1283
19. Flygare J., Aspesi A., Bailey J.C., Miyake K., Caffrey J.M., Karlsson S., and Ellis S.R. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood 109 (2007) 980-986
20. Idol R.A., Robledo S., Du H.Y., Crimmins D.L., Wilson D.B., Ladenson J.H., Bessler M., and Mason P.J. 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. 39 (2007) 35-43
21. Choesmel V., Fribourg S., Aguissa-Touré A.H., Pinaud N., Legrand P., Gazda H.T., and Gleizes P.E. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. Hum. Mol. Genet. 17 (2008) 1253-1263
22. Perdahl E.B., Naprstek B.L., Wallace W.C., and Lipton J.M. Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 83 (1994) 645-650
23. Miyake K., Utsugisawa T., Flygare J., Kiefer T., Hamaguchi I., Richter J., and Karlsson S. 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 (2008) 323-329
24. Danilova N., Sakamoto K.M., and Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood 112 (2008) 5228-5237
25. 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., et al. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat. Genet. 40 (2008) 963-970
26. 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. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br. J. Haematol. 127 (2004) 105-113
27. Quarello P., Garelli E., Carando A., Brusco A., Calabrese R., Dufour C., Longoni D., Misuraca A., Vinti L., Aspesi A., et al. Diamond-Blackfan anemia: Genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations. Haematologica (2009) Published online September 22, 2009