Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Reexamination Certificate
1998-10-14
2001-10-09
Brusca, John S. (Department: 1631)
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
C536S023400, C536S024310, C536S024100
Reexamination Certificate
active
06300485
ABSTRACT:
FIELD OF THE INVENTION
This invention relates to the fields of molecular biology and pharmaceutical research. More specifically, this invention relates to the identification and recombinant expression of two new genes, cyclic nucleotide gated channel-15 (CNGC-15) and Myosin IXa. Accordingly, isolation of the human myosin IXa gene will prove useful in the study, diagnosis and treatment of Bardet-Biedl Syndrome, Usher Syndrome and related conditions.
BACKGROUND OF THE INVENTION
Usher Sydrome typel (USH1) is characterized by a profound congenital sensoneural hearing loss, vestibular dysfinction and prepubescent onset retinitis pigmentosa. Family studies indicated that three genes with different chromosomal locations are responsible for USH1; a defect in any one of these genes causes the disease. Of these, the gene USH1B mapped to a region homologous to the murine region containing the mouse deafness mutant shaker-1 which results from mutations in myosin VIIa. Subsequent work confirmed that myosin VIIa is the cause of Usher Sydrome type 1B and localized the myosin VIIa protein to the receptor cells of the inner ear (Hasson et al. (1995)
Genomics
36:431-439) and the connecting cilia of photoreceptor cells in the retina (Liu et al. (1997)
Cell Motil. Cytoskel
. 37:240-252).
Retinitis pigmentosa is also associated with Bardet-Biedl Syndrome. Bardet-Biedl Syndrome is further characterized by obesity, retinal degeneration, syndactyly and/or polydactyly, hypogenitalism and mental retardation (Schachat et al. (1982)
Arch. Ophthalmol
. 100:285-288; Green et al. (1989)
N. Engl. J. Med
. 321:1002-1009) and can result from aberrations in one of at least four different genes. Other publications relating to myosin IXa include Bruford et al. (1997)
Genomics
41:93-99 and Bement et al. (1994)
Proc. Natl. Acad. Sc. USA
91:6549-6553.
All references cited herein are incorporated by reference.
SUMMARY OF THE INVENTION
The present invention discloses the amino acid and nucleic acid sequences of a new Cyclic nucleotide gated channel (CNGC) and Myosin that map to the region of the human chromosome associated with Bardet-Biedl Syndrome. CNGCs comprise a family of multimeric protein ion channels that open in response to the binding of a cyclic nucleotide to an intracellular domain. The two new proteins, CNGC-15 and Myosin IXa, are useful in the study, diagnosis and treatment of Bardet-Biedl Syndrome and Usher Syndrome. Other indications that can be treated by CNGC-15 and/or Myosin IXa polypeptides, or agonists or antagonists include hearing loss, retinis pigmentosa, obesity, hypogonadism, sterility, polydactyly, brachydactyly, syndactyly, mental retardation, renal abnormalities, hypertension, diabetes and cardiovascular abnormalities.
Compositions and methods for expressing cyclic nucleotide gated channel-15 (CNGC-15) and Myosin IXa are provided. The compositions comprise CNGC-15 and Myosin IXa polypeptides and derivatives thereof, nucleotide sequences, expression cassettes, transformed cells and antibodies to these polypeptides. Methods for the expression and detection of CNGC-15 and Myosin IXa nucleotides and polypeptides and compositions for the treatment of these conditions are provided.
REFERENCES:
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Emest Database Entry, Accession No. AA279085, Apr. 3, 1997.
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Quest, et al., “A Phorbol Ester Binding Domain of Protein Kinase C&ggr;” Journal of Biological Chemistry, vol. 269, No. 4, Jan. 28, 1994, pp. 2961-2970.
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Alignment of Myosin IXa NA with Myosin IXB.
MASPAR Search with CNGC-15 Partial cDNA using Genbank, ESTs Genbank, Patent GeneSeq.
MASPAR Search with Myosin IXa Amino Acid Sequence using Non-Redundant, Patented Genseq, Est Weekly Prot.
MASPAR Search of First 500 Nucleotides of Myosin IXa cDNA using Genbank, ESTs Genbank, Patent GeneSeq, Genetic Inst seqs.
MASPAR Search of Second 500 Nucleotides of Myosin IXa cDNA using Genbank, ESTs Genbank, Patent GeneSeq, Genetic Inst seqs.
MASPAR Search of Third 500 Nucleotides of Myosin IXa cDNA using Genban, ESTs Genbank, Patent GeneSeq, Genetic Inst seqs.
MASPAR Search of Fourth 500 Nucleotides of Myosin IXa cDNA using Genbank, ESTs Genbank, Patent GeneSeq, Genetic Inst seqs.
MASPAR Search of Fifth 500 Nucleotides of Myosin IXa cDNA using Genbank, ESTs Genbank, Patent GeneSeq, Genetic Inst seqs.
MASPAR Search of Sixth 500 Nucleotides of Mysoin IXa cDNA using Genbank, ESTs Genbank, Patent GeneSeq, Genetic Inst seqs.
MASPAR Search of Seventh 500 Nucleotides of Myosin IX
Adams Arwen E.
Chiu Choi Ying
Duhl David
Gorman Susan W.
Leng Song
Blackburn Robert P.
Brusca John S.
Chiron Corporation
Kim Young
Morley Kimberlin L.
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