| References |
|
|
Armistead J,
Khatkar S,
Meyer B et al.
(2009)
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
American Journal of Human Genetics
84:
728739.
|
|
|
Barna M,
Pusic A,
Zollo O et al.
(2008)
Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency.
Nature
456:
971975.
|
|
|
Boocock GR,
Morrison JA,
Popovic M et al.
(2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nature Genetics
33:
97101.
|
|
|
Buchhaupt M,
Meyer B,
Kotter P and
Entian KD
(2006)
Genetic evidence for 18S rRNA binding and an Rps19p assembly function of yeast nucleolar protein Nep1p.
Molecular Genetics and Genomics
276:
273284.
|
|
|
Chagnon P,
Michaud J,
Mitchell G et al.
(2002)
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
American Journal of Human Genetics
71:
14431449.
|
|
|
Choesmel V,
Bacqueville D,
Rouquette J et al.
(2007)
Impaired ribosome biogenesis in Diamond-Blackfan anemia.
Blood
109:
12751283.
|
|
|
Dai MS and
Lu H
(2004)
Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5.
Journal of Biological Chemistry
279:
4447544482.
|
|
|
Danilova N,
Sakamoto KM and
Lin S
(2008)
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.
Blood
112:
52285237.
|
|
|
Dauwerse JG,
Dixon J,
Seland S et al.
(2011)
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nature Genetics
43:
2022.
|
|
|
De Benedetti A and
Graff JR
(2004)
eIF-4E expression and its role in malignancies and metastases.
Oncogene
23:
31893199.
|
|
|
De Souza RA
(2010)
Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect.
Clinical Genetics
77:
116118.
|
|
|
Dixon J,
Jones NC,
Sandell LL et al.
(2006)
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
Proceedings of the National Academy of Sciences of the USA
103:
1340313408.
|
|
|
Doherty L,
Sheen MR,
Vlachos A et al.
(2010)
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
American Journal of Human Genetics
86:
222228.
|
|
|
Draptchinskaia N,
Gustavsson P,
Andersson B et al.
(1999)
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Nature Genetics
21:
169175.
|
|
|
Ebert BL,
Pretz J,
Bosco J et al.
(2008)
Identification of RPS14 as a 5q-syndrome gene by RNA interference screen.
Nature
451:
335339.
|
|
|
Farrar JE,
Nater M,
Caywood E et al.
(2008)
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Blood
112:
15821592.
|
|
|
Finch AJ,
Hilcenko C,
Basse N et al.
(2011)
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Genes and Development
25:
917929.
|
|
|
Flygare J,
Aspesi A,
Bailey JC et al.
(2007)
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.
Blood
109:
980986.
|
|
|
Freed EF and
Baserga SJ
(2010)
The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.
Nucleic Acids Research
38:
47984806.
|
|
|
Freed EF,
Prieto JL,
McCann KL,
McStay B and
Baserga SJ
(2012)
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.
PLoS Genetics
8:
e1002892.
|
|
|
Gazda HT,
Grabowska A,
Merida-Long LB et al.
(2006)
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
American Journal of Human Genetics
79:
11101118.
|
|
|
Gazda HT,
Preti M,
Sheen MR et al.
(2012)
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Human Mutation
33:
10371044.
|
|
|
Gazda HT,
Sheen MR,
Vlachos A et al.
(2008)
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
American Journal of Human Genetics
83:
769780.
|
|
|
Gonzales B,
Henning D,
So RB et al.
(2005)
The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
Human Molecular Genetics
14:
20352043.
|
|
|
Gripp KW,
McDonald-McGinn DM,
La Rossa D et al.
(2001)
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia.
American Journal of Medical Genetics
101:
268274.
|
|
|
Horn HF and
Vousden KH
(2008)
Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway.
Oncogene
27:
57745784.
|
|
|
Horos R,
Ijspeert H,
Pospisilova D et al.
(2012)
Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.
Blood
119:
262272.
|
|
|
Jones NC,
Lynn ML,
Gaudenz K et al.
(2008)
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Nature Medicine
14:
125133.
|
|
|
Liu JM and
Ellis SR
(2006)
Ribosomes and marrow failure: coincidental association or molecular paradigm?
Blood
107:
45834588.
|
|
|
Lo KY,
Li Z,
Bussiere C et al.
(2010)
Defining the pathway of cytoplasmic maturation of the 60S ribosomal subunit.
Molecular Cell
39:
196208.
|
|
|
MacInnes AW,
Amsterdam A,
Whittaker CA,
Hopkins N and
Lees JA
(2008)
Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations.
Proceedings of the National Academy of Sciences of the USA
105:
1040810413.
|
|
|
McGowan KA,
Li JZ,
Park CY et al.
(2008)
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Nature Genetics
40:
963970.
|
|
|
Meier UT
(2006)
How a single protein complex accommodates many different H/ACA RNAs.
Trends in Biochemical Sciences
31:
311315.
|
|
|
Menne TF,
Goyenechea B,
Sanchez-Puig N et al.
(2007)
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.
Nature Genetics
39:
486495.
|
|
|
Meyer B,
Wurm JP,
Kotter P et al.
(2011)
The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Psi1191 in yeast 18S rRNA.
Nucleic Acids Research
39:
15261537.
|
|
|
O'Donohue MF,
Choesmel V,
Faubladier M,
Fichant G and
Gleizes PE
(2010)
Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.
Journal of Cell Biology
190:
853866.
|
|
|
Pittman RH,
Andrews MT and
Setzer DR
(1999)
A feedback loop coupling 5 S rRNA synthesis to accumulation of a ribosomal protein.
Journal of Biological Chemistry
274:
3319833201.
|
|
|
Ridanpaa M,
van Eenennaam H,
Pelin K et al.
(2001)
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Cell
104:
195203.
|
|
|
Saitsu H,
Osaka H,
Sasaki M et al.
(2011)
Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
American Journal of Human Genetics
89:
644651.
|
|
|
Sankaran VG,
Ghazvinian R,
Do R et al.
(2012)
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
Journal of Clinical Investigation
122:
24392443.
|
|
|
Sasaki M,
Kawahara K,
Nishio M et al.
(2011)
Regulation of the MDM2-P53 pathway and tumor growth by PICT1 via nucleolar RPL11.
Nature Medicine
17:
944951.
|
|
|
Schmitt ME and
Clayton DA
(1993)
Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae.
Molecular and Cellular Biology
13:
79357941.
|
|
|
Singh SA,
Vlachos A,
Morgenstern NJ et al.
(2012)
Breast cancer in a case of Shwachman Diamond syndrome.
Pediatric Blood and Cancer
59:
945946.
|
|
|
Thiel CT,
Horn D,
Zabel B et al.
(2005)
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
American Journal of Human Genetics
77:
795806.
|
|
|
Valdez BC,
Henning D,
So RB,
Dixon J and
Dixon MJ
(2004)
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Proceedings of the National Academy of Sciences of the USA
101:
1070910714.
|
|
|
Vlachos A,
Rosenberg PS,
Atsidaftos E,
Alter BP and
Lipton JM
(2012)
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan anemia registry.
Blood
119:
38153819.
|
|
|
Watkins NJ and
Bohnsack MT
(2012)
The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA.
Wiley Interdisciplinary Reviews: RNA
3:
397414.
|
|
|
Wong CC,
Traynor D,
Basse N,
Kay RR and
Warren AJ
(2011)
Defective ribosome assembly in Shwachman-Diamond syndrome.
Blood
118:
43054312.
|
|
|
Yoon A,
Peng G,
Brandenburger Y et al.
(2006)
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.
Science
312:
902906.
|
|
|
Yu B,
Mitchell GA and
Richter A
(2005)
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.
Experimental Cell Research
311:
218228.
|
| Further Reading |
|
|
Goldberg TA,
Singh S,
Solaimanzadeh J et al.
(2011)
Knockdown of p53 improves hematopoietic and erythroid differentiation defects in mouse embryonic stem cell models of Diamond Blackfan anemia.
Blood
118:
330.
|
|
|
Held WA,
Ballou B,
Mizushima S and
Nomura M
(1974)
Assembly mapping of 30 S ribosomal proteins from E. coli. Further studies.
Journal of Biological Chemistry
249:
31033111.
|
|
|
Mason PJ and
Bessler M
(2011)
The genetics of dyskeratosis congenita.
Cancer Genetics
204:
635645.
|
|
|
Shenoy N,
Kessel R,
Bhagat TD et al.
(2012)
Alterations in the ribosomal machinery in cancer and hematologic disorders.
Journal of Hematology and Oncology
5:
32.
|
|
|
Shimamura A and
Alter BP
(2010)
Pathophysiology and management of inherited bone marrow failure syndromes.
Blood Reviews
24:
101122.
|
|
|
Tschochner H and
Hurt E
(2003)
Pre-ribosomes on the road from the nucleolus to the cytoplasm.
Trends in Cell Biology
13:
255263.
|
|
|
Zemp I and
Kutay U
(2007)
Nuclear export and cytoplasmic maturation of ribosomal subunits.
FEBS Letters
581:
27832793.
|