Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency

被引：19

作者：

Badhai, Jitendra ^{[1
]}

Frojmark, Anne-Sophie ^{[1
]}

Razzaghian, Hamid Reza ^{[1
]}

Davey, Edward ^{[1
]}

Schuster, Jens ^{[1
]}

Dahl, Niklas ^{[1
]}

机构：

[1] Uppsala Univ, Rudbeck Lab, Dept Genet & Pathol, SE-75185 Uppsala, Sweden

来源：

FEBS LETTERS | 2009年 / 583卷 / 12期

基金：

美国国家卫生研究院;

关键词：

Diamond-Blackfan anemia (DBA); Ribosomal protein S19; Haploinsufficiency; Ribosome biogenesis; Antibody; DIAMOND-BLACKFAN ANEMIA; GENE; S19; MATURATION; BIOGENESIS; MUTATIONS; DEFECTS; SIRNA; MODEL;

D O I：

10.1016/j.febslet.2009.05.023

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Ribosomal protein S19 (RPS19) is mutated in patients with Diamond-Blackfan anemia (DBA). We hypothesized that decreased levels of RPS19 lead to a coordinated down-regulation of other ribosomal (r-) proteins at the subunit level. We show that small interfering RNA (siRNA) knock-down of RPS19 results in a relative decrease of small subunit (SSU) r-proteins (S20, S21 and S24) when compared to large subunit (LSU) r-proteins (L3, L9, L30 and L38). This correlates with a relative decrease in 18S rRNA with respect to 28S rRNA. The r-protein mRNA levels remain relatively unchanged indicating a post transcriptional regulation of r-proteins at the level of subunit formation. (C) 2009 Federation of European Biochemical Societies. published by Elsevier B. V. All rights reserved.

引用

页码：2049 / 2053

页数：5

共 25 条

[1] RPS19 mutations in patients with Diamond-Blackfan anemia [J].

Campagnoli, Maria Francesca ;

Ramenghi, Ugo ;

Armiraglio, Marta ;

Quarello, Paola ;

Garelli, Emanuela ;

Carando, Adriana ;

Avondo, Federica ;

Pavesi, Elisa ;

Fribourg, Sebastien ;

Gleizes, Pierre-Emmanuel ;

Loreni, Fabrizio ;

Dianzani, Irma .

HUMAN MUTATION, 2008, 29 (07) :911-920

[2] Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder [J].

Choesmel, Valerie ;

Fribourg, Sebastien ;

Aguissa-Toure, Almass-Houd ;

Pinaud, Noel ;

Legrand, Pierre ;

Gazda, Hanna T. ;

Gleizes, Pierre-Emmanuel .

HUMAN MOLECULAR GENETICS, 2008, 17 (09) :1253-1263

[3] Impaired ribosome biogenesis in Diamond-Blackfan anemia [J].

Choesmel, Valerie ;

Bacqueville, Daniel ;

Rouquette, Jacques ;

Noaillac-Depeyre, Jacqueline ;

Fribourg, Sebastien ;

Cretien, Aurore ;

Leblanc, Thierry ;

Tchernia, Gil ;

Da Costa, Lydie ;

Gleizes, Pierre-Emmanuel .

BLOOD, 2007, 109 (03) :1275-1283

[4] Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia [J].

Cmejla, Radek ;

Cmejlova, Jana ;

Handrkova, Helena ;

Petrak, Jiri ;

Pospisilova, Dagmar .

HUMAN MUTATION, 2007, 28 (12) :1178-1182

[5]

Cmejlova J, 2006, HAEMATOLOGICA, V91, P1456

[6] The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia [J].

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 .

NATURE GENETICS, 1999, 21 (02) :169-175

[7] An RNA interference model of RPS 19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray [J].

Ebert, BL ;

Lee, MM ;

Pretz, JL ;

Subramanian, A ;

Mak, R ;

Golub, TR ;

Sieff, CA .

BLOOD, 2005, 105 (12) :4620-4626

[8] Diamond Blackfan anemia: A disorder of red blood cell development [J].

Ellis, Steven R. ;

Lipton, Jeffrey M. .

RED CELL DEVELOPMENT, 2008, 82 :217-+

[9] Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia [J].

Farrar, Jason E. ;

Nater, Michelle ;

Caywood, Emi ;

McDevitt, Michael A. ;

Kowalski, Jeanne ;

Takemoto, Clifford M. ;

Talbot, C. Conover, Jr. ;

Meltzer, Paul ;

Esposito, Diane ;

Beggs, Alan H. ;

Schneider, Hal E. ;

Grabowska, Agnieszka ;

Ball, Sarah E. ;

Niewiadomska, Edyta ;

Sieff, Colin A. ;

Vlachos, Adrianna ;

Atsidaftos, Eva ;

Ellis, Steven R. ;

Lipton, Jeffrey M. ;

Gazda, Hanna T. ;

Areci, Robert J. .

BLOOD, 2008, 112 (05) :1582-1592

[10] Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia [J].

Flygare, J ;

Kiefer, T ;

Miyake, K ;

Utsugisawa, T ;

Hamaguchi, I ;

Da Costa, L ;

Richter, J ;

Davey, EJ ;

Matsson, H ;

Dahl, N ;

Wiznerowicz, M ;

Trono, D ;

Karlsson, S .

BLOOD, 2005, 105 (12) :4627-4634

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