Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations

Human Mutation

Volumn 35, Issue 9, 2014, Pages 1114-1122

  Vulinovic, Franca ^a   Lohmann, Katja ^a   Rakovic, Aleksandar ^a   Capetian, Philipp ^a   Alvarez Fischer, Daniel ^a   Schmidt, Alexander ^a   Weißbach, Anne ^a   Erogullari, Alev ^a   Kaiser, Frank J ^a   Wiegers, Karin ^a   Ferbert, Andreas ^b   Rolfs, Arndt ^c   Klein, Christine ^a   Seibler, Philip ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b KLINIKUM KASSEL   (Germany)

^c UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

Dystonia; DYT1; Endoplasmic reticulum; Protein degradation; Protein stability; TOR1A; TorsinA

Indexed keywords

BAFILOMYCIN; DOXYCYCLINE; PROTEASOME INHIBITOR; CHAPERONE; TOR1A PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; BLEPHAROSPASM; CELLULAR DISTRIBUTION; CERVICAL DYSTONIA; COMPARATIVE STUDY; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC SCREENING; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOPRECIPITATION; LYSOSOME; MAJOR CLINICAL STUDY; MALE; MUSICIAN'S DYSTONIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLASMID; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN STABILITY; QUANTITATIVE ANALYSIS; SEGMENTAL DYSTONIA; SPASMODIC DYSPHONIA; TOR1A GENE; TORSINA GENE; WESTERN BLOTTING; WRITER'S CRAMP; CELL LINE; CHEMISTRY; DYSTONIA MUSCULORUM DEFORMANS; GENE FREQUENCY; GENETICS; INTRACELLULAR SPACE; METABOLISM; MIDDLE AGED; MUTATION; ONSET AGE; PROTEIN MULTIMERIZATION; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADULT; AGE OF ONSET; AUTOPHAGY; CELL LINE; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENE FREQUENCY; HUMANS; INTRACELLULAR SPACE; LYSOSOMES; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; PROTEIN TRANSPORT; PROTEOLYSIS; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84905968361     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22604     Document Type: Article

References (28)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7(4):248-249.
2. Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. 2009. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 30(8):1237-1244.
3. Calakos N, Patel VD, Gottron M, Wang G, Tran-Viet KN, Brewington D, Beyer JL, Steffens DC, Krishnan RR, Zuchner S. 2010. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J Med Genet 47(9):646-650.
4. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. 2012. Predicting the functional effect of amino acid substitutions and indels. PLoS One 7(10):e46688.
5. Giles LM, Chen J, Li L, Chin LS. 2008. Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope. Hum Mol Genet 17(17):2712-2722.
6. Gonzalez-Alegre P, Paulson HL. 2004. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 24(11):2593-2601.
7. Goodchild RE, Dauer WT. 2004. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA 101(3):847-852.
8. Goodchild RE, Kim CE, Dauer WT. 2005. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48(6):923-932.
9. Gordon KL, Gonzalez-Alegre P. 2008. Consequences of the DYT1 mutation on torsinA oligomerization and degradation. Neuroscience 157(3):588-595.
10. Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby DJ, Ozelius LJ, Ramesh V, Breakefield XO. 2000. Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet 9(9):1403-1413.
11. Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, et al. 2004. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 62(3):395-400.
12. Kaiser F, Osmanovic A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. 2010. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 68:554-559.
13. Kasten M, Hagenah J, Graf J, Lorwin A, Vollstedt EJ, Peters E, Katalinic A, Raspe H, Klein C. 2013. Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK). Int J Epidemiol 42(1):128-128k.
14. Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, et al. 1999. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 3(4):323-328.
15. Koh JY, Iwabuchi S, Harata NC. 2013. Dystonia-associated protein torsinA is not detectable at the nerve terminals of central neurons. Neuroscience 253:316-329.
16. Kumar P, Henikoff S, Ng PC. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4(7):1073-1081.
17. Kustedjo K, Bracey MH, Cravatt BF. 2000. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J Biol Chem 275(36):27933-27939.
18. Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, et al. 2001. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3(3):133-143.
19. Liu Z, Zolkiewska A, Zolkiewski M. 2003. Characterization of human torsinA and its dystonia-associated mutant form. Biochem J 374(Pt 1):117-122.
20. Misbahuddin A, Placzek MR, Taanman JW, Gschmeissner S, Schiavo G, Cooper JM, Warner TT. 2005. Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov Disord 20(4):432-440.
21. Nery FC, Armata IA, Farley JE, Cho JA, Yaqub U, Chen P, da Hora CC, Wang Q, Tagaya M, Klein C, Tannous B, Caldwell KA, et al. 2011. TorsinA participates in endoplasmic reticulum-associated degradation. Nat Commun 2:393.
22. Neuwald AF, Aravind L, Spouge JL, Koonin EV. 1999. AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res 9(1):27-43.
23. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, et al. 1997. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 17(1):40-48.
24. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, et al. 1998. The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol 78:93-105.
25. Park IH, Lerou PH, Zhao R, Huo H, Daley GQ. 2008. Generation of human-induced pluripotent stem cells. Nat Protoc 3(7):1180-1186.
26. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. 2010. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8):575-576.
27. Thusberg J, Olatubosun A, Vihinen M. 2011. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32(4):358-368.
28. Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Muller U. 2008. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry 79(12):1327-1330.