Plenary paper Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
نویسندگان
چکیده
Jason E. Farrar,1 Michelle Nater,1 Emi Caywood,1 Michael A. McDevitt,2 Jeanne Kowalski,3 Clifford M. Takemoto,4 C. Conover Talbot Jr,5 Paul Meltzer,6 Diane Esposito,7 Alan H. Beggs,8,9 Hal E. Schneider,8 Agnieszka Grabowska,8 Sarah E. Ball,10 Edyta Niewiadomska,11 Colin A. Sieff,9,12,13 Adrianna Vlachos,14 Eva Atsidaftos,14 Steven R. Ellis,15 Jeffrey M. Lipton,14 Hanna T. Gazda,8,9 and Robert J. Arceci1
منابع مشابه
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by anemia, congenital abnormalities, and cancer predisposition. Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients. We used a candidate gene strategy combining high-resolution genomic mapping and gene expression microarray in the analysis of 2 DBA patien...
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BACKGROUND Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S1...
متن کاملMutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
BACKGROUND Diamond-Blackfan anemia is a rare, clinically heterogeneous, congenital red cell aplasia: 40% of patients have congenital abnormalities. Recent studies have shown that in western countries, the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes in about 50% of patients. There have been no studies to determine the incidence of these mutations in Asia...
متن کاملRibosomal protein gene deletions in Diamond-Blackfan anemia.
Diamond-Blackfan anemia (DBA) is a congenital BM failure syndrome characterized by hypoproliferative anemia, associated physical abnormalities, and a predisposition to cancer. Perturbations of the ribosome appear to be critically important in DBA; alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ...
متن کاملExtensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Fifty percent of Diamond-Blackfan anemia (DBA) patients possess mutations in genes coding for ribosomal proteins (RPs). To identify new mutations, we investigated large deletions in the RP genes RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26. We developed an easy method based on quantitative-PCR in which the threshold cycle correlates to gene copy number. Using this approach, ...
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