Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase

Biochimie

Volumn 95, Issue 7, 2013, Pages 1403-1410

  Kálmán, Fanni S ^a   Lizák, Beáta ^a   Nagy, Szilvia K ^a   Mészáros, Tamás ^a   Zámbó, Veronika ^a   Mandl, József ^a   Csala, Miklós ^a   Kereszturi, Éva ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

Desaturase; Diabetes; Endoplasmic reticulum; Missense mutation; Proteasome

Indexed keywords

CYTOCHROME B5 REDUCTASE; GLUTAMIC ACID; GLYCINE; MESSENGER RNA; NADH CYTOCHROME B5 OXIDOREDUCTASE; PROTEASOME INHIBITOR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CELL STRAIN HEK293; CELL STRAIN HEPG2; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; ENZYME CONFORMATION; EXON; GENE; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NCB5OR GENE; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSIENT TRANSFECTION;

CYTOCHROME-B(5) REDUCTASE; HEK293 CELLS; HEP G2 CELLS; HUMANS; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; RNA, MESSENGER; TRANSFECTION;

EID: 84878546428     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2013.03.004     Document Type: Article

References (22)

1. H. Zhu, H. Qiu, H.W. Yoon, S. Huang, and H.F. Bunn Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells Proc. Natl. Acad. Sci. U. S. A. 96 1999 14742 14747
2. B. Deng, S. Parthasarathy, W. Wang, B.R. Gibney, K.P. Battaile, S. Lovell, D.R. Benson, and H. Zhu Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain J. Biol. Chem. 285 2010 30181 30191
3. K. Larade, and H.F. Bunn Promoter characterization and transcriptional regulation of Ncb5or, a novel reductase necessary for pancreatic beta-cell maintenance Biochim. Biophys. Acta 1759 2006 257 262
4. H. Zhu, K. Larade, T.A. Jackson, J. Xie, A. Ladoux, H. Acker, U. Berchner-Pfannschmidt, J. Fandrey, A.R. Cross, G.S. Lukat-Rodgers, K.R. Rodgers, and H.F. Bunn NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum J. Biol. Chem. 279 2004 30316 30325
5. K. Larade, Z. Jiang, Y. Zhang, W. Wang, S. Bonner-Weir, H. Zhu, and H.F. Bunn Loss of Ncb5or results in impaired fatty acid desaturation, lipoatrophy, and diabetes J. Biol. Chem. 283 2008 29285 29291
6. K. Larade, Z.G. Jiang, A. Dejam, H. Zhu, and H.F. Bunn The reductase NCB5OR is responsive to the redox status in beta-cells and is not involved in the ER stress response Biochem. J. 404 2007 467 476
7. M. Xu, W. Wang, J.R. Frontera, M.C. Neely, J. Lu, D. Aires, F.F. Hsu, J. Turk, R.H. Swerdlow, S.E. Carlson, and H. Zhu Ncb5or deficiency increases fatty acid catabolism and oxidative stress J. Biol. Chem. 286 2011 11141 11154
8. E. Diakogiannaki, H.J. Welters, and N.G. Morgan Differential regulation of the endoplasmic reticulum stress response in pancreatic beta-cells exposed to long-chain saturated and monounsaturated fatty acids J. Endocrinol. 197 2008 553 563
9. D.R. Laybutt, A.M. Preston, M.C. Akerfeldt, J.G. Kench, A.K. Busch, A.V. Biankin, and T.J. Biden Endoplasmic reticulum stress contributes to beta cell apoptosis in type 2 diabetes Diabetologia 50 2007 752 763
10. H.P. Harding, and D. Ron Endoplasmic reticulum stress and the development of diabetes: a review Diabetes 51 Suppl. 3 2002 S455 S461
11. J. Mandl, T. Meszaros, G. Banhegyi, L. Hunyady, and M. Csala Endoplasmic reticulum: nutrient sensor in physiology and pathology Trends Endocrinol. Metab. 20 2009 194 201
12. Y. Zhang, K. Larade, Z.G. Jiang, S. Ito, W. Wang, H. Zhu, and H.F. Bunn The flavoheme reductase Ncb5or protects cells against endoplasmic reticulum stress-induced lipotoxicity J. Lipid Res. 51 2010 53 62
13. J. Xie, H. Zhu, K. Larade, A. Ladoux, A. Seguritan, M. Chu, S. Ito, R.T. Bronson, E.H. Leiter, C.Y. Zhang, E.D. Rosen, and H.F. Bunn Absence of a reductase, NCB5OR, causes insulin-deficient diabetes Proc. Natl. Acad. Sci. U. S. A. 101 2004 10750 10755
14. W. Wang, Y. Guo, M. Xu, H.H. Huang, L. Novikova, K. Larade, Z.G. Jiang, T.C. Thayer, J.R. Frontera, D. Aires, H. Ding, J. Turk, C.E. Mathews, H.F. Bunn, L. Stehno-Bittel, and H. Zhu Development of diabetes in lean Ncb5or-null mice is associated with manifestations of endoplasmic reticulum and oxidative stress in beta cells Biochim. Biophys. Acta 1812 2011 1532 1541
15. H.P. Harding, H. Zeng, Y. Zhang, R. Jungries, P. Chung, H. Plesken, D.D. Sabatini, and D. Ron Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival Mol. Cell. 7 2001 1153 1163
16. P. Zhang, B. McGrath, S. Li, A. Frank, F. Zambito, J. Reinert, M. Gannon, K. Ma, K. McNaughton, and D.R. Cavener The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas Mol. Cell. Biol. 22 2002 3864 3874
17. S. Oyadomari, A. Koizumi, K. Takeda, T. Gotoh, S. Akira, E. Araki, and M. Mori Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes J. Clin. Invest. 109 2002 525 532
18. T. Grussenmeyer, K.H. Scheidtmann, M.A. Hutchinson, W. Eckhart, and G. Walter Complexes of polyoma virus medium T antigen and cellular proteins Proc. Natl. Acad. Sci. U. S. A. 82 1985 7952 7954
19. S.N. Ho, H.D. Hunt, R.M. Horton, J.K. Pullen, and L.R. Pease Site-directed mutagenesis by overlap extension using the polymerase chain reaction Gene 77 1989 51 59
20. L.V. Harper, A.C. Hilton, and A.F. Jones RT-PCR for the pseudogene-free amplification of the glyceraldehyde-3-phosphate dehydrogenase gene (gapd) Mol. Cell. Probes 17 2003 261 265
21. G. Andersen, L. Wegner, C.S. Rose, J. Xie, H. Zhu, K. Larade, A. Johansen, J. Ek, J. Lauenborg, T. Drivsholm, K. Borch-Johnsen, P. Damm, T. Hansen, H.F. Bunn, and O. Pedersen Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus Diabetes 53 2004 2992 2997
22. T. Sjoblom, S. Jones, L.D. Wood, D.W. Parsons, J. Lin, T.D. Barber, D. Mandelker, R.J. Leary, J. Ptak, N. Silliman, S. Szabo, P. Buckhaults, C. Farrell, P. Meeh, S.D. Markowitz, J. Willis, D. Dawson, J.K. Willson, A.F. Gazdar, J. Hartigan, L. Wu, C. Liu, G. Parmigiani, B.H. Park, K.E. Bachman, N. Papadopoulos, B. Vogelstein, K.W. Kinzler, and V.E. Velculescu The consensus coding sequences of human breast and colorectal cancers Science 314 2006 268 274