Spinocerebellar ataxia type 8 and methods of detection

Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives

Reexamination Certificate

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

C536S024300, C536S024310, C536S024330, C435S006120, C435S091200

Reexamination Certificate

active

07741458

ABSTRACT:
The present invention provides an isolated nucleic acid molecule containing a repeat region of an isolated spinocerebellar ataxia type 8 (SCA8) coding sequence, the coding sequence located within the long arm of chromosome 13, and the complement of the nucleic acid molecule. Diagnostic methods based on identification of this repeat region are also provided.

REFERENCES:
patent: 4683194 (1987-07-01), Saiki et al.
patent: 4683195 (1987-07-01), Mullis et al.
patent: 5558988 (1996-09-01), Prockop et al.
patent: 5695933 (1997-12-01), Schalling et al.
patent: 5741645 (1998-04-01), Orr et al.
patent: 5807743 (1998-09-01), Stinchcomb et al.
patent: 5834183 (1998-11-01), Orr et al.
patent: 6183953 (2001-02-01), Raymond
patent: 6524791 (2003-02-01), Ranum et al.
patent: 95/01437 (1995-01-01), None
patent: WO 95/01437 (1995-01-01), None
patent: 97/42314 (1997-11-01), None
Alignment for Genbank Accession No. E09524, Sep. 1997 (result 12).
Nemes, Human Molecular Genetics, vol. 9, pp. 1543-1551, 2000.
Alignment-Blast: for AF126748.1 and gi: 7249018.
Alignment for W09501437 (result 6).
Moseley et al; Nature Genetics, vol. 38, pp. 754-769; 2006.
Ikeda et al; The Cerebellum, 2008, pp. 1-9.
Genbank Accession No. E09524; Sep. 1997.
Genbank Accession No. AC013803; Mar. 2000.
Kawaguchi et al., “CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1,”Nature Genet., 221-228 (1994).
Kim et al., “NRP/B, a Novel Nuclear Matrix Protein, Associates With p110RBand Is Involved in Neuronal Differentiation,”J. Cell Biol., 141, 553-566 (1998).
Koide et al., “Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA),”Nature Genet., 6, 9-13 (1994).
Koob et al., “A 3' untranslated CTG repeat causes spinocerebellar ataxia type 8 (SCA8),” abstract, www.faseb.org/genetics/ashg/ann-meet, published Sep. 30, 1998.
Koob et al., “Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA,”Nature Genet., 18, 72-75 (1998).
Lathrop et al., “Strategies for multilocus linkage analysis in humans,”Proc. Natl. Acad. Sci. USA, 81, 3443-3446 (1984).
Levitan, Textbook of Human Genetics, 3ed. Oxford University Press, NY 1988.
Lindblad et al., “An Expanded CAG Repeat Sequence in Spincerebellar Ataxia Type 7,” Genome Research, 6, 965-971 (1996).
Lindblad et al., American Journal of Human Genetics, 59 (4 Suppl.), p. A269, Meeting Abstract (Oct.-Nov. 1996).
Maxam et al., “Sequencing End-Labeled DNA with Base-Specific Chemical Cleavages,”Methods in Enzymology, 65, 499-557 (1980).
Messing et al., “A system for shotgun DNA sequencing,”Nucl. Acids Res., 9, 309-321 (1981).
Moseley et al., “Frequency and dramatic instability of the 3' untranslated CTG repeat causing spinocerebellar ataxia type 8 (SCA8),” abstract, www.faseb.org/genetics/ashg/ann-meet, published Sep. 30, 1998.
Nagafuchi et al., “Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p,”Nature Genet., 6, 14-18 (1994).
Orr et al., “Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1,”Nature Gent., 4, 211-226 (1993).
Ott,Analysis of Human Genetic Linkage, Revised Edition, The Johns Hopkins University Press, Baltimore, MD, title page and table of contents (1991).
Pulst et al., “Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2,”Nature Genet., 14, 269-276 (1996).
Ranum at al., “Spinocerebellar Ataxia Type 1 and Machado-Joseph Disease: Incidence of CAG Expansions among Adult-Onset Ataxia Patients from 311 Families with Dominant, Recessive, or Sporadic Ataxia,”Am. J. Hum. Genet., 57, 603-608 (1995).
Ranum et al., “Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11,” Nature Genet.; 8. 280-284 (1994).
Robinson et al, “Drosophila Kelch Is an Oligomeric Ring Canal Actin Organizer,”J. Cell Biol., 138, 799-810 (1997).
Saiki et al., “Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia,”Science, 230, 1350-1354 (1985).
Sambrook et al.,Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory: New York, pp. 11.2-11.4 (1993).
Sambrook et al.,Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory: New York, cover page and table of contents (1989).
Sanpei et al., “Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT,”Nature Genet., 14, 277-284 (1996).
Scharf et al., “Direct Cloning and Sequence Analysis of Enzymatically Amplified Genomic Sequences,”Science, 233, 1076-1078 (1986).
Takiyama et al., “The gene for Machado-Joseph disease maps to human chromosome 14q,”Naure Genet., 4, 300-304 (1993).
Vincent et al, “Unstable DNA in major psychoses: cloning of a new unstable trinucleotide repeat region on chromosome 13,” abstract, www.faseb.org/genetics/ashg/ann-meet, published Sep. 30, 1998.
Zhuchenko et al., “Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel,”Nature Genet., 15, 62-69 (1997).
Ashizawa et al., “Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat,”Neurology, 42, 1877-1883 (1992).
Benomar et al., “The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1,”Nature Genet., 10, 84-88 (1995).
David et al., “Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion,”Nature Genet., 17, 65-70 (1997).
Gardner et al., “Autosomal Dominant Spinocerebellar Ataxia: Clinical Description of a Distinct Hereditary Ataxia and Genetic Localization to Chromosome 16 (SCA4) in a Utah Kindred,” Abstract 921S,Neurology, 44, A361 (1994).
Gispert et al., “Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1,”Nature Genet., 4, 295-299 (1993).
Gouw et al., “Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p,”Nature Genet., 10, 89-93 (1995).
Hernandez et al., “ENC-1: A Novel Mammalian Kelch-Related Gene Specifically Expressed in the Nervous System Encodes an Actin-Binding Protein,”J. Neurosci., 17, 3038-3051 (1997).
Imbert et al., “Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats,”Nature Genet., 14, 285-291 (1996).
Nikali et al., “Toward Cloning of a Novel Ataxia Gene: Refined Assignment and Physical Map of the IOSCAS Locus (SCA8) on10q24,”Genomics, Jan. 15, 1997. vol. 39(2):185-191.
Yabe et al. “Hereditary spinocerebellar degeneration,”J Sen Dement, 1998. vol. 12(3):299-311, and English Translation.
Tanaka et al., “Age of onset-specific central nervous system disorders Spinocerebellar degeneration and predilection age,”Clin. Neurosci. 1988. vol. 16(1):43-46, and English Translation.

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Spinocerebellar ataxia type 8 and methods of detection does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Spinocerebellar ataxia type 8 and methods of detection, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Spinocerebellar ataxia type 8 and methods of detection will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-4214005

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.