Huntingtin DNA, protein and uses thereof

Details Huntingtin DNA, protein and uses thereof Huntingtin DNA, protein and uses thereof

1994-05-20

1997-11-11

Jagannathan, Vasu S.

Chemistry: molecular biology and microbiology

Spore forming or isolating process

4353201, 435 691, 536 235, 530350, C12N 500, C12N 1512, C07H 1700, C07K 1400

Patent

active

056862881

ABSTRACT:
A novel gene, huntingtin, is described, encoding huntingtin protein, recombinant vectors and hosts capable of expressing huntingtin. Methods for the diagnosis and treatment of Huntington's disease are also provided.

REFERENCES:
Allitto, B.A. et al., "Increased recombination adjacent to the Huntington disease-linked D4S10 marker," Genomics 9:104-112 (1991).
Altherr, M.R. et al., "Radiation hybrid map spanning the Huntington disease gene region of chromosome 4," Genomics 13:1040-1046 (1992).
Altschul, S.F. et al., "Basic local alignment search tool," J. Mol. Biol. 215:403-410 (1990).
Ambrose, C. et al., "A novel G protein-coupled receptor kinase gene cloned from 4p16.3," Hum. Mol. Genet. 1(9) :697-703 (1992).
Anderson M.A. and Gusella, J.F., "Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines," In Vitro 20(11):856-858 (Nov. 1984).
Andrew S.E. et al., "The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease," Nature Genet. 4:398-403 (Aug. 1993).
Ashizawa, T. and Epstein, H.F., "Ethnic distribution of myotonic dystrophy " Lancet 338:642-643 (Sep. 7, 1991).
Aslanidis, C. et al., "Cloning of the essential myotonic dystrophy region and mapping of the putative defect," Nature 355:548-551 (Feb. 6, 1992).
Bates, G.P. et al., "Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region," Nature Genet. 1:180-187 (Jun. 1992).
Bates, G.P. et al., "Defined physical limits of the Huntington disease gene candidate region," Am. J. Hum. Genet. 49:7-16 (1991).
Bates, G.P. et al., "A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene," Am. J. Hum. Genet. 46:762-775 (1990).
Baxendale, S. et al. "The direct screening of cosmid libraries with YAC clones," Nucleic Acids Res. 19(23):6651 (Aug. 20, 1991).
Biancalana, V. et al., "Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy," Hum. Mol. Genet. (4):255-258 (1992).
Brook, J.D. et al., "Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member," Cell 68:799-808 (Feb. 21, 1992).
Brunner, H.G. et al., "Brief report: reverse mutation in myotonic dystrophy," New Engl. J. Med. 328(7):476-480 (Feb. 18, 1993).
Bucan, M. et al., "Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation," Genomics 6:1-15 (1990).
Buckler, A.J. et al., "Exon amplification: a strategy to isolate mammalian genes based on RNA splicing," Proc. Natl. Acad. Sci. USA 88:4005-4009 (May 1991).
Buxton, J. et al., "Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy," Nature 355:547-548 (Feb. 6, 1992).
Cheng, S.V. et al., "Synteny on Mouse Chromosome 5 of Homologs for human DNA Loci Linked to the Huntington Disease Gene," Genomics 4:419-426 (1989).
Conneally, P.M. et al., "Huntington disease: no evidence for locus heterogeneity," Genomics 5:304-308 (1989).
Daly, C.B., "Genetic cause is identified for Huntington's disease," The Washington Post, Mar. 24, 1993.
DeBoulle, K. et al., "A point mutation in the FMR-1 gene associated with fragile X mental retardation," Nature Genet. 3:31-35 (Jan. 1993).
Doucette-Stamm, L.A. et al., "Generation and characterization of irradiation hybrids of human chromosome 4," Somat. Cell Mol. Genet. 17(5):471-480 (1991).
Duyao, M. et al., "Trinucleotide repeat length instability and age of onset in Huntington's disease," Nature Genet. 4:387-392 (Aug. 1993).
Fu Y.H. et al., "An unstable triplet repeat in a gene related to myotonic muscular dystrophy," Science 255:1256-1258 (Mar. 6, 1992).
Fu, Y.H. et al., "Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox," Cell 67:1047-1058 (Dec. 20, 1991).
Goldberg, Y.P. et al., "Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease," Nature 362:370-373 (Mar. 25, 1993).
Goodfellow, P.N., "Planting alfalfa and cloning the Huntington's disease gene," Cell 72:817-818 (Mar. 26, 1993).
Gusella, J.F. "Chapter 3--Huntington's disease," Adv. Hum. Genet. 20:125-151 (1991).
Gusella, J.F., "Location cloning strategy for characterizing genetic defects in Huntington's disease and Alzheimer's disease," FASEB J. 3:2036-2041 (Jul. 1989).
Gusella, J.F. et al. "DNA markers for nervous system diseases," Science 225:1320-1326 (Sep. 21, 1984).
Gusella, J.F. et al., "A polymorphic DNA marker genetically linked to Huntington's disease," Nature 306:234-238 (Nov. 17, 1983).
Gusella, J.F. et al., "Precise localization of human .beta.-globin gene complex on chromosome 11," Proc. Natl. Acad. Sci. USA 76(10):5239-5243 (Oct. 1979).
Gusella, J.F. and Macdonald, M.E., "Hunting for Huntington's Disease," In: Molecular Genetic Medicine, vol. III, Ed. Friedmann, Academic Press (San Diego), pp. 139-158 (1993).
Harley, H.G. et al., "Unstable DNA sequence in myotonic dystrophy," Lancet 339:1125-1128 (May 9, 1992).
Harley, H.G. et al., "Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy," Nature 355:545-546 (Feb. 6, 1992).
Harley, H.G. et al., "Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker," Am. J. Hum. Genet. 49:68-75 (1991).
Harper, P.S., "The epidemiology of Huntington's disease," Hum. Genet. 89:365-376 (1992).
Hoogeveen, A.T. et al., "Characterization and localization of the Huntington disease gene product," Hum. Mol. Genet. 2(12):2069-2073 (1993).
Jerome, R., "Huntington's cornered," The Sciences, p. 7 (May/Jun. 1993).
Kremer, E.J. et al., "Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n," Science 252:1711-1714 (Jun. 21, 1991).
LaSpada, A.R. et al., "Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy," Nature 352:77-79 (Jul. 4, 1991).
Lin, B. et al., "Sequence of the murine Huntington disease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing," Hum. Mol. Genet. 3(1):85-92 (1994).
Lin, B. et al., "Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression," Hum. Mol. Genet. 2(10):1541-1545 (1993).
Lin, C.S. et al., "New DNA markers in the Huntington's disease gene candidate region," Somat. Cell Mol. Genet. 17(5):481-488 (1991).
Little, P., "The end of the beginning," Nature 362:408-409 (Apr. 1, 1993).
MacDonald, M.E. et al. "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes," Cell 72:971-983 (Mar. 26, 1993).
MacDonald, M.E. et al., "Gametic but not somatic instability of CAG repeat length in Huntington's disease," J. Med. Genet. 30:982-986 (1993).
MacDonald, M.E. et al., "The Huntington's disease candidate region exhibits many different haplotypes," Nature Genet. 1:99-103 (May 1992).
MacDonald M.E. et al., "Complex patterns of linkage disequilibrium in the Huntington disease region," Am. J. Hum. Genet. 49:723-734 (1991).
MacDonald, M.E. et al., "Clustering of multiallele DNA markers near the Huntington's disease gene," J. Clin. Invest. 84:1013-1016 (Sep. 1989).
MacDonald, M.E. et al., "Recombination events suggest potential sites for the Huntington's disease gene," Neuron 3:183-190 (Aug. 1989).
Mahadevan, M. et al., "Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene," Science 255:1253-1255 (Mar. 6, 1992).
Martin, J.B. and Gusella, J.F., "Huntington's disease: pathogenesis and management," New Engl. J. Med. 315(20):1267-1276 (Nov. 13, 1986).
McClatchey, A.I. et al., "The genomic structure of the human skeletal muscle sodium channel gene," Hum. Mol. Genet. 1(7):521-527 (1992).
Merritt, A.D. et al., "Juvenile Huntington's chorea," Excerpta Medica, Amsterdam, pp. 645-650 (1969).
Morell, V., "Huntington's gene finally found," Science 260:28-30 (Apr. 2, 1993).
Myers, R.H. et al., "Homoz

Affiliated with

Also associated with

Rating

Huntingtin DNA, protein and uses thereof does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Huntingtin DNA, protein and uses thereof, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Huntingtin DNA, protein and uses thereof will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-1228099