Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Reexamination Certificate
2003-09-25
2010-02-02
Johannsen, Diana B (Department: 1634)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
C435S019000, C435S091200, C536S025320
Reexamination Certificate
active
07655401
ABSTRACT:
In one aspect, the invention provides methods of identifying genetic mutations that are associated with ataxic neurological disease. The methods comprise identifying a difference between a nucleic acid sequence of a protein kinase C gamma gene from a mammalian subject exhibiting ataxia and a nucleic acid sequence of a protein kinase C gamma gene from a subject which is not exhibiting ataxia, wherein the difference is a genetic mutation associated with ataxic neurological disease. In another aspect, isolated nucleic acid molecules encoding protein kinase C gamma missense mutations are provided. In another aspect, a method of screening a subject to determine if the subject has a genetic predisposition to develop an ataxic neurological disease is provided. In another aspect, the invention provides kits for determining susceptibility or presence of ataxic neurological disease in a mammalian subject.
REFERENCES:
Abeliovich, A., et al., “PKCγ Mutant Mice Exhibit Mild Deficits in Spatial and Contextual Learning,”Cell75:1263-1271, Dec. 31, 1993.
Brkanac, Z., et al., “A New Dominant Spinocerebellar Ataxia Linked to Chromosome 19q13.4-qter,”Arch. Neurol. 59:1291-1295, Aug. 2002.
Brkanac, Z., et al., “Autosomal Dominant Sensory/Motor Neuropathy With Ataxia (SMNA): Linkage to Chromosome 7q22-q32,”Am. J. Med. Genet. 114:450-457, 2002.
Burright, E.N., et al., “SCAITransgenic Mice: A Model for Neurodegeneration Caused by an Expanded CAG Trinucleotide Repeat,”Cell82(6):937-948, Sep. 22, 1995.
Chen, C., et al., “Impaired Motor Coordination Correlates With Persistent Multiple Climbing Fiber Innervation in PKCγ Mutant Mice,”Cell83:1233-1242, Dec. 29, 1995.
Chen, D.-H., et al., “Cerebral Cavernous Malformation: Novel Mutation in a Chinese Family and Evidence for Heterogeneity,”J. Neurological Sciences196:91-96, 2002.
Chen, D.-H., “Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia,”Am. J. Hum. Genet. 72:839-849, 2003.
Clark, H.B., et al., “Purkinje Cell Expression of a Mutant Allele ofSCAIin Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological Alterations,”Journal of Neuroscience17(19):7385-7395, Oct. 1, 1997.
Coussens, L., et al., “Multiple, Distinct Forms of Bovine and Human Protein Kinase C Suggest Diversity in Cellular Signaling Pathways,”Science233:859-866, Aug. 22, 1986.
Kazanietz, M.G., et al., “Residues in the Second Cysteine-rich Region of Protein Kinase C δ Relevant to Phorbol Ester Binding as Revealed by Site-Directed Mutagenesis,”J. Biol. Chem. 270(37):21852-21859, Sep. 15, 1995.
Klement, I.A., et al., “Ataxin-1 Nuclear Localization and Aggregation: Role in Polyglutamine-Induced Disease inSCAITransgenic Mice,”Cell95:41-53, Oct. 2, 1998.
Knopf, J.L., et al., “Cloning and Expression of Multiple Protein Kinase C cDNAs,”Cell46:491-502, Aug. 15, 1986.
Mariotti, C. and S. Di Donato, “Cerebellar/Spinocerebellar Syndromes,”Neurol. Sci. 22:S88-S92, 2001.
Mosely, M.L., et al., “Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxia Families,”Neurology51:1666-1671, Dec. 1998.
Newton, A.C., Protein Kinase C: Structural and Spatial Regulation by Phosphorylation, Cofactors, and Macromolecular Interactions,Chem. Rev. 101:2353-2364, 2001.
Quest, A.F.G., et al., “A Phorbol Ester Binding Domain of Protein Kinase Cγ: Deletion Analysis of the CYS2 Domain Defines a Minimal 43-Amino Acid Peptide,”J. Biol. Chem269(4):2961-2970, Jan. 28, 1994.
Raskind, W.H., et al., “Loss of Heterozygosity in Chondrosarcomas for Markers Linked to Hereditary MultipleExostoses Locion Chromosomes 8 and 11,”Am. J. Hum. Genet. 56:1132-1139, 1995.
Rosenberg, R.N., “Autosomal Dominant Cerebellar Phenotypes: The Genotype Has Settled the Issue,”Neurology45:1-5, Jan. 1995.
Saito, N., et al., “Distribution of Protein Kinase C-Like Immunoreactive Neurons in Rat Brain,”Journal of Neuroscience8(2):369-382, Feb. 1988.
Skinner, P.J., et al., “Altered Trafficking of Membrane Proteins in Purkinje Cells ofSCAITransgenic Mice,”American Journal of Pathology159(3):905-913, Sep. 2001.
Tanaka, C., and Y. Nishizuka, “The Protein Kinase C Family for Neuronal Signaling,”Annu. Rev. Neurosci. 17:551-567, 1994.
Van Swieten, J.C., et al., “A Mutation in theFibroblast Growth Factor14 Gene Is Associated With Autosomal Dominant Ataxia,”Am. J. Hum. Genet. 72:191-199, 2003.
Xu, R.X., et al., “NMR Structure of a Protein Kinase C-γ Phorbol-Binding Domain and Study of Protein-Lipid Micelle Interactions,”Biochemistry36:10709-10717, 1997.
Yamashita, I., et al., “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,”Annals of Neurology48(2):156-163, Aug. 2000.
Zhang, G., et al., “Crystal Structure of the Cys2 Activator-Binding Domain of Protein Kinase Cδ in Complex With Phorbol Ester,”Cell81:917-924, Jun. 16, 1995.
Bird Thomas D.
Brkanac Zoran
Chen Dong-Hui
Raskind Wendy H.
Christensen O'Connor Johnson & Kindness PLLC
Johannsen Diana B
University of Washington
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