Translational pathophysiology: a novel molecular mechanism of human disease
Tóm tắt
Tài liệu tham khảo
Lewin, 1997, Genes VI.
Semenza, 1994, Transcriptional regulation of gene expression: mechanisms and pathophysiology., Hum Mutat., 3, 180, 10.1002/humu.1380030304
Alberts, 1989, Molecular Biology of the Cell.
Gray, 1998, Control of translation initiation in animals., Annu Rev Cell Dev Biol., 14, 399, 10.1146/annurev.cellbio.14.1.399
Kozak, 1999, Initiation of translation in prokaryotes and eukaryotes., Gene., 234, 187, 10.1016/S0378-1119(99)00210-3
Barabino, 1999, Last but not least: regulated poly(A) tail formation., Cell., 99, 9, 10.1016/S0092-8674(00)80057-4
Rao, 1988, The 5′ untranslated sequence of the c-sis/platelet-derived growth factor 2 transcript is a potent translational inhibitor., Mol Cell Biol., 8, 284, 10.1128/MCB.8.1.284
Bernstein, 1997, PDGF2/c-sis mRNA leader contains a differentiation-linked internal ribosomal entry site (D-IRES)., J Biol Chem., 272, 9356, 10.1074/jbc.272.14.9356
Kim, 1992, Post-transcriptional regulation of the human transforming growth factor-beta 1 gene., J Biol Chem., 267, 13702, 10.1016/S0021-9258(18)42270-3
Grens, 1990, The 5′- and 3′-untranslated regions of ornithine decarboxylase mRNA affect the translational efficiency., J Biol Chem., 265, 11810, 10.1016/S0021-9258(19)38470-4
Manzella, 1990, Regulation of rat ornithine decarboxylase mRNA translation by its 5′-untranslated region., J Biol Chem., 265, 11817, 10.1016/S0021-9258(19)38471-6
Theil, 1994, Iron regulatory elements (IREs): a family of mRNA non-coding sequences., Biochem J., 304, 1, 10.1042/bj3040001
Klausner, 1993, Regulating the fate of mRNA: the control of cellular iron metabolism., Cell., 72, 19, 10.1016/0092-8674(93)90046-S
Gunshin, 1997, Cloning and characterization of a mammalian proton-coupled metal-ion transporter., Nature., 388, 482, 10.1038/41343
Nielsen, 1995, Growth-dependent translation of IGF-II mRNA by a rapamycin-sensitive pathway., Nature., 377, 358, 10.1038/377358a0
Nielsen, 1999, A family of insulin-like growth factor II mRNA-binding proteins represses translation in late development., Mol Cell Biol., 19, 1262, 10.1128/MCB.19.2.1262
Rogers, 1999, Translation of the Alzheimer amyloid precursor protein mRNA is up-regulated by interleukin-1 through 5′-untranslated region sequences., J Biol Chem., 274, 6421, 10.1074/jbc.274.10.6421
Ghilardi, 1998, Thrombopoietin production is inhibited by a translational mechanism., Blood., 92, 4023, 10.1182/blood.V92.11.4023
Namen, 1988, Stimulation of B-cell progenitors by cloned murine interleukin-7., Nature., 333, 571, 10.1038/333571a0
Bamford, 1996, Interleukin (IL) 15/IL-T production by the adult T-cell leukemia cell line HuT-102 is associated with a human T-cell lymphotrophic virus type I region /IL-15 fusion message that lacks many upstream AUGs that normally attenuates IL-15 mRNA translation., Proc Natl Acad Sci U S A., 93, 2897, 10.1073/pnas.93.7.2897
Nishimura, 1998, Translational efficiency is up-regulated by alternative exon in murine IL-15 mRNA., J Immunol., 160, 936, 10.4049/jimmunol.160.2.936
Arrick, 1991, Inhibition of translation of transforming growth factor-beta 3 mRNA by its 5′ untranslated region., Mol Cell Biol., 11, 4306, 10.1128/MCB.11.9.4306
Arrick, 1994, Enhanced translational efficiency of a novel transforming growth factor beta 3 mRNA in human breast cancer cells., Mol Cell Biol., 14, 619, 10.1128/MCB.14.1.619
Huez, 1998, Two independent internal ribosome entry sites are involved in translation initiation of vascular endothelial growth factor mRNA., Mol Cell Biol., 18, 6178, 10.1128/MCB.18.11.6178
Harigai, 1996, A cis-acting element in the BCL-2 gene controls expression through translational mechanisms., Oncogene., 12, 1369
Phelps, 1998, Coupled transcriptional and translational control of cyclin-dependent kinase inhibitor p18INK4c expression during myogenesis., Mol Cell Biol., 18, 2334, 10.1128/MCB.18.4.2334
Mize, 1998, The inhibitory upstream open reading frame from mammalian S-adenosylmethionine decarboxylase mRNA has a strict sequence specificity in critical positions., J Biol Chem., 273, 32500, 10.1074/jbc.273.49.32500
Parola, 1994, The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis., J Biol Chem., 269, 4497, 10.1016/S0021-9258(17)41806-0
McGraw, 1998, Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression., J Clin Invest., 102, 1927, 10.1172/JCI4862
Ossipow, 1993, CCAAT/enhancer-binding protein mRNA is translated into multiple proteins with different transcription activation potentials., Proc Natl Acad Sci U S A., 90, 8219, 10.1073/pnas.90.17.8219
Descombes, 1991, A liver-enriched transcriptional activator protein, LAP, and a transcriptional inhibitory protein, LIP, are translated from the same mRNA., Cell., 67, 569, 10.1016/0092-8674(91)90531-3
Acland, 1990, Subcellular fate of the int-2 oncoprotein is determined by choice of initiation codon., Nature., 343, 662, 10.1038/343662a0
Florkiewicz, 1989, Human basic fibroblast growth factor gene encodes four polypeptides: three initiate translation from non-AUG codons., Proc Natl Acad Sci U S A., 86, 3978, 10.1073/pnas.86.11.3978
Prats, 1989, High molecular mass forms of basic fibroblast growth factor are initiated by alternative CUG codons., Proc Natl Acad Sci U S A., 86, 1836, 10.1073/pnas.86.6.1836
Arnaud, 1999, A new 34-kilodalton isoform of human fibroblast growth factor 2 is cap dependently synthesized by using a non-AUG start codon and behaves as a survival factor., Mol Cell Biol., 19, 505, 10.1128/MCB.19.1.505
Hann, 1988, A non-AUG translational initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas., Cell., 52, 185, 10.1016/0092-8674(88)90507-7
Hann, 1992, Translational activation of the non-AUG-initiated c-myc 1 protein at high cell densities due to methionine deprivation., Genes Dev., 6, 1229, 10.1101/gad.6.7.1229
Carter, 1999, Differential expression of Myc1 and Myc2 isoforms in cells transformed by eIF4E: evidence for internal ribosome repositioning in the human c-myc 5′UTR., Oncogene., 18, 4326, 10.1038/sj.onc.1202890
Saris, 1991, The pim-1 oncogene encodes two related protein-serine/threonine kinases by alternative initiation at AUG and CUG., EMBO J., 10, 655, 10.1002/j.1460-2075.1991.tb07994.x
Packham, 1997, Mammalian cells express two differently localized Bag-1 isoforms generated by alternative translation initiation., Biochem J., 328, 807, 10.1042/bj3280807
Yang, 1999, Cloning and characterization of the human BAG-1 gene promoter: upregulation by tumor-derived p53 mutants., Oncogene., 18, 4546, 10.1038/sj.onc.1202843
Kozak, 1996, Interpreting cDNA sequences: some insights from studies on translation., Mamm Genome., 7, 563, 10.1007/s003359900171
Miller, 1990, cis-Acting sequences involved in the translational control of GCN4 expression., Biochim Biophys Acta., 1050, 151, 10.1016/0167-4781(90)90157-W
Ruan, 1996, The upstream open reading frame of the mRNA encoding S-adenosylmethionine decarboxylase is a polyamine-responsive translational control element., J Biol Chem., 271, 29576, 10.1074/jbc.271.47.29576
Cao, 1996, Inhibition of nascent-peptide release at translation termination., Mol Cell Biol., 16, 7109, 10.1128/MCB.16.12.7109
Su, 1998, The G185R mutation disrupts function of the iron transporter Nramp2., Blood., 92, 2157, 10.1182/blood.V92.6.2157
Zhou, 1998, HFE gene knockout produces mouse model of hereditary hemochromatosis., Proc Natl Acad Sci U S A., 95, 2492, 10.1073/pnas.95.5.2492
Fleming, 1999, Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1., Proc Natl Acad Sci U S A., 96, 3143, 10.1073/pnas.96.6.3143
Rouault, 1989, The iron-responsive element binding protein: a method for the affinity purification of a regulatory RNA-binding protein., Proc Natl Acad Sci U S A., 86, 5768, 10.1073/pnas.86.15.5768
Haile, 1989, Regulation of interaction of the iron-responsive element binding protein with iron-responsive RNA elements., Mol Cell Biol., 9, 5055, 10.1128/MCB.9.11.5055
Samaniego, 1994, Molecular characterization of a second iron-responsive element binding protein, iron regulatory protein 2: structure, function, and post-translational regulation., J Biol Chem., 269, 30904, 10.1016/S0021-9258(18)47367-X
Gray, 1994, Iron regulatory protein prevents binding of the 43S translation pre-initiation complex to ferritin and eALAS mRNAs., EMBO J., 13, 3882, 10.1002/j.1460-2075.1994.tb06699.x
Muckenthaler, 1998, IRP-1 binding to ferritin mRNA prevents the recruitment of the small ribosomal subunit by the cap-binding complex eIF4F., Mol Cell., 2, 383, 10.1016/S1097-2765(00)80282-8
Haile, 1992, Reciprocal control of RNA-binding and aconitase activity in the regulation of the iron-responsive element binding protein: role of the iron-sulfur cluster., Proc Natl Acad Sci U S A., 89, 7536, 10.1073/pnas.89.16.7536
Iwai, 1998, Iron-dependent oxidation, ubiquitination, and degradation of iron regulatory protein 2: implications for degradation of oxidized proteins., Proc Natl Acad Sci U S A., 95, 4924, 10.1073/pnas.95.9.4924
Rogers, 1996, Ferritin translation by interleukin-6: the role of sequences upstream of the start codons of the heavy and light subunit genes., Blood., 87, 2525, 10.1182/blood.V87.6.2525.bloodjournal8762525
Girelli, 1995, A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract., Br J Haematol., 90, 931, 10.1111/j.1365-2141.1995.tb05218.x
Bonneau, 1995, Bilateral cataract and high serum ferritin: a new dominant genetic disorder?, J Med Genet., 32, 778, 10.1136/jmg.32.10.778
Beaumont, 1995, Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract., Nature Genet., 11, 444, 10.1038/ng1295-444
Girelli, 1995, Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”)., Blood., 86, 4050, 10.1182/blood.V86.11.4050.bloodjournal86114050
Aguilar-Martinez, 1996, A novel mutation in the iron responsive element of ferritin l-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome [letter]., Blood., 88, 1895, 10.1182/blood.V88.5.1895.bloodjournal8851895
Merkt, 1997, Hereditary hyperferritinemia-cataract syndrome., Dtsch Med Wochenschr., 122, 504, 10.1055/s-2008-1047644
Cazzola, 1997, Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA., Blood., 90, 814, 10.1182/blood.V90.2.814
Girelli, 1997, Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene., Blood., 90, 2084, 10.1182/blood.V90.5.2084
Arnold, 1997, Hyperferritinaemia in the absence of iron overload., Gut., 41, 408, 10.1136/gut.41.3.408
Martin, 1998, A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome., Blood., 91, 319, 10.1182/blood.V91.1.319
Mumford, 1998, Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element [letter]., Blood., 91, 367, 10.1182/blood.V91.1.367
Cicilano, 1999, Recurrent mutations in the IRE of L-ferritin in hereditary hyperferritinemia-cataract syndrome., Haematologica., 84, 489
Balas, 1999, Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family [letter]., Blood., 93, 4020, 10.1182/blood.V93.11.4020
Cremonesi, 1999, Development of a DG-DGGE method for rapid mutational scanning in ferritin L-chain IRE: an approach for screening of hereditary hyperferritinemia cataract syndrome (HHCS) [abstract]. Proceedings of the World Congress on Iron Metabolism., 164
Beaumont, 1999, Genetic studies on patients with elevated serum ferritin levels and no iron overload: evaluation at a two year recruitment [abstract]. Proceedings of the World Congress on Iron Metabolism., 161
Brools, 1999, A novel mutation of the “bulge cytosine” in the human L ferritin iron responsive element causes hyperferritinemia/cataract syndrome [abstract]. Proceedings of the World Congress on Iron Metabolism., 163
Kato, 1999, L-ferritin-Baltimore-1: a novel mutation in the iron response element (C32G) as a cause of the hyperferritinemia-cataract syndrome [abstract]., Blood., 94, 407a
Girelli, 1999, Molecular, biochemical and clinical findings in a series of families with the hereditary hyperferritinemia-cataract syndrome. [abstract]., Blood., 94, 644a
Allerson, 1999, Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome., J Biol Chem., 274, 26439, 10.1074/jbc.274.37.26439
Levi, 1998, Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome., Blood., 91, 4180, 10.1182/blood.V91.11.4180
Arosio, 1999, Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene., Haematologica., 84, 560
Luukkonen, 1995, Efficiency of reinitiation of translation on human immunodeficiency virus type 1 mRNAs is determined by the length of the upstream open reading frame and by intercistronic distance., J Virol., 69, 4086, 10.1128/JVI.69.7.4086-4094.1995
Kaushansky, 1998, Thrombopoietin., N Engl J Med., 339, 746, 10.1056/NEJM199809103391107
Stoffel, 1996, Thrombopoietin in thrombocytopenic mice: evidence against regulation at the mRNA level and for a direct regulatory role of platelets., Blood., 87, 567, 10.1182/blood.V87.2.567.bloodjournal872567
Cohen-Solal, 1996, Constitutive expression of Mpl ligand transcripts during thrombocytopenia or thrombocytosis., Blood., 88, 2578, 10.1182/blood.V88.7.2578.bloodjournal8872578
Schlemper, 1994, Familial essential thrombocythemia: clinical characteristics of 11 cases in one family., Ann Hematol., 68, 153, 10.1007/BF01727421
Wiestner, 1998, An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia., Nature Genet., 18, 49, 10.1038/ng0198-49
Kondo, 1998, Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene., Blood., 92, 1091, 10.1182/blood.V92.4.1091
Ghilardi, 1999, A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocytosis through a mechanism of more efficient translation of TPO mRNA [letter]., Blood., 94, 1480, 10.1182/blood.V94.4.1480
Kikuchi, 1995, Familial thrombocytosis., Br J Haematol., 89, 900, 10.1111/j.1365-2141.1995.tb08432.x
Ghilardi, 1999, Hereditary thrombocythemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene., Br J Haematol., 107, 310, 10.1046/j.1365-2141.1999.01710.x
Jorgensen, 1998, Familial thrombocytosis associated with overproduction of thrombopoietin due to a novel splice donor site mutation [abstract]., Blood., 92, 205a
Fickers, 1974, Thrombocythaemia: familial occurrence and transition into blastic crisis., Acta Haematol., 51, 257, 10.1159/000208303
Slee, 1981, Familial myeloproliferative disease., Acta Med Scand., 210, 321, 10.1111/j.0954-6820.1981.tb09824.x
Eyster, 1986, Familial essential thrombocythemia., Am J Med., 80, 497, 10.1016/0002-9343(86)90727-8
Fernandez-Robles, 1990, Familial essential thrombocythemia., Pediatr Hematol Oncol., 7, 373, 10.3109/08880019009033414
Janssen, 1990, Essential thrombocythemia in two sisters originating from different stem cell levels., Blood., 75, 1633, 10.1182/blood.V75.8.1633.1633
Yagisawa, 1990, Familial essential thrombocythemia in a daughter and mother [in Japanese]., Nippon Naika Gakkai Zasshi., 79, 531, 10.2169/naika.79.531
Williams, 1991, Benign familial thrombocytosis., Am J Hematol., 37, 124, 10.1002/ajh.2830370211
Perez-Encinas, 1994, Familial myeloproliferative syndrome., Am J Hematol., 46, 225, 10.1002/ajh.2830460312
Ulibarrena, 1997, Familial essential thrombocythemia associated with von Willebrand disease [letter]., Med Clin (Barc)., 109, 237
Cohen, 1997, Benign familial microcytic thrombocytosis with autosomal dominant transmission., Clin Genet., 52, 47, 10.1111/j.1399-0004.1997.tb02513.x
Kunishima, 1998, Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study., Br J Haematol., 100, 383, 10.1046/j.1365-2141.1998.00571.x
Holland, 1999, CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas., Genes Chromosomes Cancer., 25, 339, 10.1002/(SICI)1098-2264(199908)25:4<339::AID-GCC5>3.0.CO;2-H
Kamb, 1994, Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus., Nature Genet., 8, 23, 10.1038/ng0994-22
Liu, 1999, Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma., Nature Genet., 21, 128, 10.1038/5082
Picard, 1996, Overexpression of the ferritin H subunit in cultured erythroid cells changes the intracellular iron distribution., Blood., 87, 2057, 10.1182/blood.V87.5.2057.2057
Galanello, 1998, Studies of Nramp2, transferrin receptor and transferrin genes as candidate genes for human hereditary microcytic anemia due to defective iron absorption and utilization [abstract]., Blood., 92, 669a
Poort, 1996, A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis., Blood., 88, 3698, 10.1182/blood.V88.10.3698.bloodjournal88103698
Burton, 1994, A lymphokine, provisionally designated interleukin T and produced by a human adult T-cell leukemia line, stimulates T-cell proliferation and the induction of lymphokine-activated killer cells., Proc Natl Acad Sci U S A., 91, 4935, 10.1073/pnas.91.11.4935
Rogers, 1999, Translation of the Alzheimer amyloid precursor protein mRNA is up-regulated by interleukin-1 through 5′-untranslated region sequences., J Biol Chem., 274, 6421, 10.1074/jbc.274.10.6421