A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

Journal of Human Genetics

Volumn 50, Issue 10, 2005, Pages 523-529

  Alonso, Isabel ^a,b   Costa, Cristina ^c   Gomes, André ^d   Ferro, Anabela ^a,b   Seixas, Ana I ^a,b   Silva, Sérgio ^e   Cruz, Vitor Tedim ^e   Coutinho, Paula ^e   Sequeiros, Jorge ^a,b   Silveira, Isabel ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL FERNANDO FONSECA   (Portugal)

^d UNIVERSITY OF COIMBRA   (Portugal)

^e Hospital So Sebastio   (Portugal)

Author keywords

Myoclonus; Neurodegenerative disease; PRKCG; Pure cerebellar ataxia; SCA14

Indexed keywords

GLUTAMINE; HISTIDINE; PROTEIN KINASE C GAMMA; SERINE; THREONINE;

ARTICLE; CELL CULTURE; CELL LINE; CELL PROLIFERATION; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; EPILEPSY; EXON; FAMILY; FEMALE; GENE CONSTRUCT; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PARAPLEGIA; PATIENT; PROTEIN PHOSPHORYLATION; SEIZURE; SPINOCEREBELLAR DEGENERATION; SYNAPTIC TRANSMISSION; TREMOR;

AMINO ACID SUBSTITUTION; CELL LINE; CHROMOSOMES, HUMAN, PAIR 19; CODON; HUMANS; POINT MUTATION; PROTEIN KINASE C; SPINOCEREBELLAR ATAXIAS;

ATAXIA;

EID: 27644562111     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0287-z     Document Type: Article

References (21)

1. Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P (2003) Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CAC-NA1A missense mutation in patients from a large family. Arch Neurol 60:610-614
2. Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD (2002) A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 59:1291-1295
3. Chen C, Kano M, Abeliovich A, Chen L, Bao S, Kim JJ, Hashimoto K, Thompson RF, Tonegawa S (1995) Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice. Cell 83:1233-1242
4. Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH (2003) Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849
5. Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD (2005) The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 64:1258-1260
6. Coussens L, Parker PJ, Rhee L, Yang-Feng TL, Chen E, Waterfield MD, Francke U, Ullrich A (1986) Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science 233:859-866
7. Knopf JL, Lee MH, Sultzman LA, Kriz RW, Loomis CR, Hewick RM, Bell RM (1986) Cloning and expression of multiple protein kinase C cDNAs. Cell 46:491-502
8. Mellor H, Parker PJ (1998) The extended protein kinase C superfamily. Biochem J 332:281-292
9. Newton AC (2003) Regulation of the ABC kinases by phosphorylation: protein kinase C as a paradigm. Biochem J 370:361-371
10. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879
11. Quest AF, Bardes ES, Bell RM (1994) A phorbol ester binding domain of protein kinase C gamma. Deletion analysis of the Cys 2 domain defines a minimal 43-amino acid peptide. J Biol Chem 269:2961-2970
12. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
13. Schols L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics and pathogenesis. Lancet Neurol 3:291-304
14. Seki T, Adachi N, Ono Y, Mochizuki H, Hiramoto K, Amano T, Matsubayashi H, Matsumoto M, Kawakami H, Saito N, Sakai N (2005) Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and cause cell death. J Biol Chem 280(32):29096-29106
15. Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A (2004) Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 61:1242-1248
16. Tanaka C, Nishizuka Y (1994) The protein kinase C family for neuronal signaling. Annu Rev Neurosci 17:551-567
17. van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ (2003) Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 61:1760-1765
18. Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW (2005) Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 128:436-442
19. Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K (2003) Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 60:1749-1751
20. Yamashita I, Sasaki H, Yabe I, Fukazawa T, Nogoshi S, Komeichi K, Takada A, Shiraishi K, Takiyama Y, Nishizawa M, Kaneko J, Tanaka H, Tsuji S, Tashiro K (2000) A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 48:156-163
21. Zeidman R, Pettersson L, Sailaja PR, Truedsson E, Fagerstrom S, Pahlman S, Larsson C (1999) Novel and classical protein kinase C isoforms have different functions in proliferation, survival and differentiation of neuroblastoma cells. Int J Cancer 81:494-501