Degradation of stop codon read-through mutant proteins via the ubiquitin-proteasome system causes hereditary disorders

Journal of Biological Chemistry

Volumn 290, Issue 47, 2015, Pages 28428-28437

  Shibata, Norihito ^a   Ohoka, Nobumichi ^a   Sugaki, Yusuke ^b   Onodera, Chiaki ^b   Inoue, Mizuho ^b   Sakuraba, Yoshiyuki ^c   Takakura, Daisuke ^a   Hashii, Noritaka ^a   Kawasaki, Nana ^a   Gondo, Yoichi ^c   Naito, Mikihiko ^a  

^a NATIONAL INSTITUTE OF HEALTH SCIENCES   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

C (PROGRAMMING LANGUAGE); CELL DEATH; GENES; PEPTIDES;

C-TERMINAL EXTENSIONS; HEPATOCYTES; HEREDITARY DISORDERS; MUTANT GENES; MUTANT PROTEINS; UBIQUITIN LIGASES; UBIQUITIN-PROTEASOME SYSTEM; UBIQUITYLATION;

PROTEINS;

FLICE INHIBITORY PROTEIN; PROTEASOME; PROTEIN TRIM21; UBIQUITIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; CFLAR PROTEIN, MOUSE; PROTEIN BINDING; RIBONUCLEOPROTEIN; SS-A ANTIGEN; STOP CODON;

ANIMAL CELL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; CONTROLLED STUDY; EMBRYO; EMBRYO DEVELOPMENT; GENE MUTATION; GENETIC DISORDER; GENETIC PARAMETERS; IN VITRO STUDY; IN VIVO STUDY; LIVER CELL; LOSS OF FUNCTION MUTATION; MOUSE; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROTEIN INTERACTION; STOP CODON READ THROUGH; UBIQUITINATION; ANIMAL; GENETICS; HOMOZYGOTE; METABOLISM; MUTANT MOUSE STRAIN; MUTATION; STOP CODON;

ANIMALS; CASP8 AND FADD-LIKE APOPTOSIS REGULATING PROTEIN; CODON, TERMINATOR; GENETIC DISEASES, INBORN; HOMOZYGOTE; MICE; MICE, MUTANT STRAINS; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN BINDING; RIBONUCLEOPROTEINS; UBIQUITIN;

EID: 84947793653     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M115.670901     Document Type: Article

References (22)

1. McCaughan, K. K., Brown, C. M., Dalphin, M. E., Berry, M. J., and Tate, W. P. (1995) Translational termination efficiency in mammals is influenced by the base following the stop codon. Proc. Natl. Acad. Sci. U.S.A. 92, 5431-5435
2. Cassan, M., and Rousset, J. P. (2001) UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals. BMC Mol. Biol. 2, 3
3. Ito-Harashima, S., Kuroha, K., Tatematsu, T., and Inada, T. (2007) Translation of the poly(A) tail plays crucial roles in nonstop mRNA surveillance via translation repression and protein destabilization by proteasome in yeast. Genes Dev. 21, 519-524
4. Tsuboi, T., Kuroha, K., Kudo, K., Makino, S., Inoue, E., Kashima, I., and Inada, T. (2012) Dom34:hbs1 plays a general role in quality-control systems by dissociation of a stalled ribosome at the 3′ end of aberrant mRNA. Mol. Cell 46, 518-529
5. Brandman, O., Stewart-Ornstein, J., Wong, D., Larson, A., Williams, C. C., Li, G. W., Zhou, S., King, D., Shen, P. S., Weibezahn, J., Dunn, J. G., Rouskin, S., Inada, T., Frost, A., and Weissman, J. S. (2012) A ribosomebound quality control complex triggers degradation of nascent peptides and signals translation stress. Cell 151, 1042-1054
6. Irmler, M., Thome, M., Hahne, M., Schneider, P., Hofmann, K., Steiner, V., Bodmer, J. L., Schröter, M., Burns, K., Mattmann, C., Rimoldi, D., French, L. E., and Tschopp, J. (1997) Inhibition of death receptor signals by cellular FLIP. Nature 388, 190-195
7. Inoue, M., Sakuraba, Y., Motegi, H., Kubota, N., Toki, H., Matsui, J., Toyoda, Y., Miwa, I., Terauchi, Y., Kadowaki, T., Shigeyama, Y., Kasuga, M., Adachi, T., Fujimoto, N., Matsumoto, R., Tsuchihashi, K., Kagami, T., Inoue, A., Kaneda, H., Ishijima, J., Masuya, H., Suzuki, T., Wakana, S., Gondo, Y., Minowa, O., Shiroishi, T., and Noda, T. (2004) A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. Hum. Mol. Genet. 13, 1147-1157
8. Yeh, W. C., Itie, A., Elia, A. J., Ng, M., Shu, H. B., Wakeham, A., Mirtsos, C., Suzuki, N., Bonnard, M., Goeddel, D. V., and Mak, T. W. (2000) Requirement for Casper (c-FLIP) in regulation of death receptor-induced apoptosis and embryonic development. Immunity 12, 633-642
9. Ohoka, N., Nagai, K., Hattori, T., Okuhira, K., Shibata, N., Cho, N., and Naito, M. (2014) Cancer cell death induced by novel small molecules degrading the TACC3 protein via the ubiquitin-proteasome pathway. Cell Death Dis. 5, e1513
10. Sakuraba, Y., Sezutsu, H., Takahasi, K. R., Tsuchihashi, K., Ichikawa, R., Fujimoto, N., Kaneko, S., Nakai, Y., Uchiyama, M., Goda, N., Motoi, R., Ikeda, A., Karashima, Y., Inoue, M., Kaneda, H., Masuya, H., Minowa, O., Noguchi, H., Toyoda, A., Sakaki, Y., Wakana, S., Noda, T., Shiroishi, T., and Gondo, Y. (2005) Molecular characterization of ENU mouse mutagenesis and archives. Biochem. Biophys. Res. Commun. 336, 609-616
11. Sakamaki, K., Inoue, T., Asano, M., Sudo, K., Kazama, H., Sakagami, J., Sakata, S., Ozaki, M., Nakamura, S., Toyokuni, S., Osumi, N., Iwakura, Y., and Yonehara, S. (2002) Ex vivo whole-embryo culture of caspase-8-deficient embryos normalize their aberrant phenotypes in the developing neural tube and heart. Cell Death Differ. 9, 1196-1206
12. McEwan, W. A., Tam, J. C., Watkinson, R. E., Bidgood, S. R., Mallery, D. L., and James, L. C. (2013) Intracellular antibody-bound pathogens stimulate immune signaling via the Fc receptor TRIM21. Nat. Immunol. 14, 327-336
13. Oke, V., and Wahren-Herlenius, M. (2012) The immunobiology of Ro52 (TRIM21) in autoimmunity: a critical review. J. Autoimmun. 39, 77-82
14. Zhang, Z., Bao, M., Lu, N., Weng, L., Yuan, B., and Liu, Y. J. (2013) The E3 ubiquitin ligase TRIM21 negatively regulates the innate immune response to intracellular double-stranded DNA. Nat. Immunol. 14, 172-178
15. Ngo, E. O., Le Page, G. R., Thanassi, J. W., Meisler, N., and Nutter, L. M. (1998) Absence of pyridoxine-5′-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA. Biochemistry 37, 7741-7748
16. Mills, P. B., Surtees, R. A., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J., Briddon, A., Scheimberg, I., Hoffmann, G. F., Zschocke, J., and Clayton, P. T. (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum. Mol. Genet. 14, 1077-1086
17. Pang, S. (2001) Congenital adrenal hyperplasia owing to 3 β-hydroxysteroid dehydrogenase deficiency. Endocrinol. Metab. Clin. North Am. 30, 81-99, vi-vii
18. Pang, S., Wang, W., Rich, B., David, R., Chang, Y. T., Carbunaru, G., Myers, S. E., Howie, A. F., Smillie, K. J., and Mason, J. I. (2002) A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causing, respectively, nonclassic and classic 3β-HSD deficiency congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 87, 2556-2563
19. Plevin, M. J., Mills, M. M., and Ikura, M. (2005) The LxxLL motif: a multifunctional binding sequence in transcriptional regulation. Trends Biochem. Sci. 30, 66-69
20. Conne, B., Stutz, A., and Vassalli, J. D. (2000) The 3′ untranslated region of messenger RNA: a molecular "hotspot" for pathology? Nat. Med. 6, 637-641
21. Eswarappa, S. M., Potdar, A. A., Koch, W. J., Fan, Y., Vasu, K., Lindner, D., Willard, B., Graham, L. M., Di Corleto, P. E., and Fox, P. L. (2014) Programmed translational readthrough generates antiangiogenic VEGF-Ax. Cell 157, 1605-1618
22. Abe, S., Katagiri, T., Saito-Hisaminato, A., Usami, S., Inoue, Y., Tsunoda, T., and Nakamura, Y. (2003) Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am. J. Hum. Genet. 72, 73-82