FBXO7 Y52C polymorphism as a potential protective factor in Parkinson's disease

PLoS ONE

Volumn 9, Issue 7, 2014, Pages

  Chen, Chiung Mei ^a   Chen, I G ^a   Huang, Yi Cheng ^b   Juan, Hsueh Fen ^c   Chen, Ying Lin ^b   Chen, Yi Chun ^a   Lin, Chih Hsin ^a   Lee, Li Ching ^b   Lee, Chi Mei ^b   Lee Chen, Guey Jen ^b   Lai, Yun Ju ^b   Wu, Yih Ru ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ENHANCED GREEN FLUORESCENT PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 2; 1 METHYL 4 PHENYLPYRIDINIUM; F BOX PROTEIN; FBXO7 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CASE CONTROL STUDY; CELL DIFFERENTIATION; CHINA; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; DISEASE PREDISPOSITION; ETHNIC GROUP; FBXO7 GENE; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE OVEREXPRESSION; GENE REPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC STABILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NERVE FIBER GROWTH; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWAN; TAIWANESE; UBIQUITINATION; AMINO ACID SEQUENCE; ANIMAL; CELL SURVIVAL; CHEMICAL STRUCTURE; CHEMISTRY; DRUG EFFECTS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PROTECTION; PROTEIN SECONDARY STRUCTURE; PROTEIN STABILITY; TOXICITY; TUMOR CELL LINE; YOUNG ADULT;

1-METHYL-4-PHENYLPYRIDINIUM; ADULT; AMINO ACID SEQUENCE; ANIMALS; CASE-CONTROL STUDIES; CELL LINE, TUMOR; CELL SURVIVAL; F-BOX PROTEINS; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTECTIVE FACTORS; PROTEIN STABILITY; PROTEIN STRUCTURE, SECONDARY; SEQUENCE HOMOLOGY, AMINO ACID; TNF RECEPTOR-ASSOCIATED FACTOR 2; UBIQUITINATION; YOUNG ADULT;

EID: 84904359872     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0101392     Document Type: Article

References (30)

1. Luo LZ, Xu Q, Guo JF, Wang L, Shi CH, et al. (2010) FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients. Neurosci Lett 482: 86-89.
2. Spatola M, Wider C (2014) Genetics of Parkinson's disease: the yield. Parkinsonism Relat Disord 20 Suppl 1: S35-38.
3. Vilariño-Güell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, et al. (2014) DNAJC13 mutations in Parkinson disease. Hum Mol Genet 23: 1794-1801.
4. Shojaee S, Sina F, Banihosseini SS, Kazemi MH, Kalhor R, et al. (2008) Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays. Am J Hum Genet 82: 1375-1384.
5. Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, et al. (2009) FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 72: 240-245.
6. Paisan-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, et al. (2010) Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 25: 1791-1800.
7. Lin CH, Chen ML, Lai TT, Tai CH, Wu RM (2013) Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population. Neurobiol Aging 34: 1713.e1-4.
8. Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C (2000) cDNA cloning and expression analysis of new members of the mammalian F-box protein family. Genomics 67: 40-47. (Pubitemid 30471119)
9. Ho MS, Ou C, Chan YR, Chien CT, Pi H (2008) The utility F-box for protein destruction. Cell Mol Life Sci 65: 1977-2000.
10. Zheng N, Schulman BA, Song L, Miller JJ, Jeffrey PD, et al. (2002) Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex. Nature 416: 703-709. (Pubitemid 34429140)
11. Chang YF, Cheng CM, Chang LK, Jong YJ, Yuo CY (2006) The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination. Biochem Biophys Res Commun 342: 1022-1026.
12. Kuiken HJ, Egan DA, Laman H, Bernards R, Beijersbergen RL, et al. (2012) Identification of F-box only protein 7 as a negative regulator of NF-kappaB signalling. J Cell Mol Med 16: 2140-2149.
13. Flood PM, Qian L, Peterson LJ, Zhang F, Shi JS, et al. (2011) Transcriptional Factor NF-kappaB as a Target for Therapy in Parkinson's Disease. Parkinsons Dis 2011: 216298.
14. Phani S, Loike JD, Przedborski S (2012) Neurodegeneration and inflammation in Parkinson's disease. Parkinsonism Relat Disord 18 Suppl 1: S207-209.
15. Zhao T, De Graaff E, Breedveld GJ, Loda A, Severijnen LA, et al. (2011) Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). PLoS One 6: e16983.
16. Sidell N (1982) Retinoic acid-induced growth inhibition and morphologic differentiation of human neuroblastoma cells in vitro. J Natl Cancer Inst 68: 589-596.
17. McNaught KS, Belizaire R, Isacson O, Jenner P, Olanow CW (2003) Altered proteasomal function in sporadic Parkinson's disease. Exp Neurol 179: 38-46. (Pubitemid 36062617)
18. Matsuda N, Tanaka K (2010) Does impairment of the ubiquitin-proteasome system or the autophagy-lysosome pathway predispose individuals to neurode-generative disorders such as Parkinson's disease? J Alzheimers Dis 19: 1-9.
19. Karbowski M, Youle RJ (2011) Regulating mitochondrial outer membrane proteins by ubiquitination and proteasomal degradation. Curr Opin Cell Biol 23: 476-482.
20. Zhao T, Zondervan-van der Linde H, Severijnen LA, Oostra BA, Willemsen R, et al. (2012) Dopaminergic neuronal loss and dopamine-dependent locomotor defects in Fbxo7-deficient zebrafish. PLoS One 7: e48911.
21. Hsu JM, Lee YC, Yu CT, Huang CY (2004) Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region. J Biol Chem 279: 32592-32602.
22. Kirk R, Laman H, Knowles PP, Murray-Rust J, Lomonosov M, et al. (2008) Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor. J Biol Chem 283: 22325-22335.
23. Laman H (2006) Fbxo7 gets proactive with cyclin D/cdk6. Cell Cycle 5: 279-282.
24. Gelb DJ, Oliver E, Gilman S (1999) Diagnostic criteria for Parkinson disease. Arch Neurol 56: 33-39. (Pubitemid 29046907)
25. Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, et al. (2006) Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett 394: 33-36. (Pubitemid 43052969)
26. Wu YR, Wu CH, Chao CY, Kuan CC, Zhang WL, et al. (2010) Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g>a single nucleotide polymorphism and risk of Taiwanese PD. Am J Med Genet B Neuropsychiatr Genet 153B: 229-234.
27. Chen CM, Lin CH, Juan HF, Hu FJ, Hsiao YC, et al. (2011) ATP13A2 variability in Taiwanese Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 156B: 720-729.
28. Lee LC, Chen CM, Wang HC, Hsieh HH, Chiu IS, et al. (2012) Role of the CCAAT-binding protein NFY in SCA17 pathogenesis. PLoS One 7: e35302.
29. Schwede T, Kopp J, Guex N, Peitsch MC (2003) SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res 31: 3381-3385. (Pubitemid 37442164)
30. van Gunsteren WF, Billeter SR, Eising AA, Hünenberger PH, Krüger P, et al. (1996) Biomolecular Simulations: The GROMOS96 Manual and User Guide. Zürich: VdF Hochschulverlag ETHZ.