Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

Haematologica

Volumn 95, Issue 8, 2010, Pages 1293-1299

  Konno, Yuki ^a   Toki, Tsutomu ^a   Tandai, Satoru ^a   Xu, Gang ^a   Wang, Ru Nan ^a   Terui, Kiminori ^a   Ohga, Shouichi ^b   Hara, Toshiro ^b   Hama, Asahito ^c   Kojima, Seiji ^c   Hasegawa, Daiichiro ^d   Kosaka, Yoshiyuki ^d   Yanagisawa, Ryu ^e   Koike, Kenichi ^e   Kanai, Rie ^f   Imai, Tsuyoshi ^g   Hongo, Teruaki ^h   Park, Myoung Ja ⁱ   Sugita, Kanji ^j   Ito, Etsuro ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Hyogo Children's Hospital   (Japan)

^e SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^g OTSU RED CROSS HOSPITAL   (Japan)

^h Iwata City Hospital   (Japan)

ⁱ Gumna Children S Medical Center   (Japan)

^j UNIVERSITY OF YAMANASHI   (Japan)

more..

Author keywords

Diamond blackfan anemia; Protein genes; Rpl5 mutation

Indexed keywords

NUCLEAR PROTEIN; PROTEIN RPL11; PROTEIN RPL35A; PROTEIN RPL5; PROTEIN RPS14; PROTEIN RPS17; PROTEIN RPS19; PROTEIN RPS24; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; CLEFT PALATE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; JAPANESE; MALE; SMALL FOR DATE INFANT; THUMB MALFORMATION;

ANEMIA, DIAMOND-BLACKFAN; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; JAPAN; MALE; MUTATION; RIBOSOMAL PROTEINS; STEROIDS; TREATMENT OUTCOME;

EID: 77956024596     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.020826     Document Type: Article

References (29)

1. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS, editors. Hematology of Infancy and Childhood. Volume 1. Saunders; Philadelphia, PA: 1998. pp. 237-335.
2. Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N. Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta. 2009;1792(10): 1036-1042.
3. Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859-876.
4. Lipton JM, Atsidaftos E, Zyskind I, Vlachos A. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer. 2006;46(5):558-564.
5. Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J, 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 Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res. 1999;46(5):553-561.
6. Campagnoli MF, Garelli E, Quarello P, Carando A, Varotto S, Nobili B, et al. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica. 2004;89(4):480-489.
7. Glader BE, Backer K, Diamond LK. Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. N Engl J Med. 1983;309(24):1486-1490.
8. Lecompte O, Ripp R, Thierry JC, Moras D, Poch O. Comparative analysis of ribosomal proteins in complete genomes: an example of reductive evolution at the domain scale. Nucleic Acids Res. 2002; 30(24):5382-5390.
9. Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donnér M, et al. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nat Genet. 1997;16(4):368-371.
10. Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999;21(2): 169-175.
11. Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, et al. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol. 2004;127(1):105-113.
12. Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, et al. Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood. 2007; 109(3):1275-1283.
13. Flygare J, Aspesi A, Bailey JC, Miyake K, Caffrey JM, Karlsson S, et al. HumanRPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. Blood. 2007;109(3): 980-986.
14. Miyake K, Utsugisawa T, Flygare J, Kiefer T, Hamaguchi I, Richter J, et al. 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. 2008;26(2): 323-329.
15. Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet. 2006;79(6):1110-1118.
16. 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(12): 1178-1182.
17. Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, 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(6):769-780.
18. Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, et al. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat. 2009;30(3): 321-327.
19. Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008;112(5):1582-1592.
20. Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, et al. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen. Nature. 2008;451 (7176):335-339.
21. Xu G, Nagano M, Kanezaki R, Toki T, Hayashi Y, Taketani T, et al. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood. 2003;102(8):2960-2968.
22. Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, et al. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood. 1999;94(12):4294-306.
23. Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, et al. 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. 2000;26(5):417-422.
24. Cmejla R, Blafkova J, Stopka T, Zavadil J, Pospisilova D, Mihal V, et al. Ribosomal protein S19 gene mutations in patients with Diamond-Blackfan anemia and identification of ribosomal protein S19 pseudogenes. Blood Cells Mol Dis. 2000;26(2):124-132.
25. Proust A, Da Costa L, Rince P, Landois A, Tamary H, Zaizov R, et al. Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. Hematol J. 2003;4(2):132-136.
26. Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, et al. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat. 2008;29(7):911-920.
27. Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood. 2001;97(7): 2145-2150.
28. Lidral AC, Murray JC. Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model. Birth Defects Res A Clin Mol Teratol. 2004; 70(12):893-901.
29. Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, et al. Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations. Haematologica. 2010; 95(2):206-213.