Casein kinase i epsilon and casein kinase i delta and sleep in humans
OwnerLouis Ptacek, Christopher Jones +1inventors
InventorsLouis Ptacek, Christopher Jones, Ying Fu
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Abstract
Genetic variants of the casein kinase I delta and casein kinase I epsilon genes are disclosed. Herein, two novel mutant casein kinase I delta genes and a novel mutant casein kinase I epsilon gene are disclosed. The protein products of the mutant casein kinase I delta gene and the mutant casein kinase I epsilon gene are also disclosed. The nucleic acid sequences of the invention lead to familial advanced sleep phase syndrome.
Claims30
An isolated nucleic acid molecule comprising a polynucleotide selected from the group consisting of:
- (a) a polynucleotide coding for a polypeptide consisting of the amino acid sequence of SEQ ID NO:
- 7;
- (b) a degenerate polynucleotide coding for a polypeptide coding for the amino acid sequence of SEQ ID NO:
- 7;
- (c) a polynucleotide complementary to the polynucleotide of (a) or (b);
- and
- (d) a polynucleotide consisting of at least 15 contiguous nucleotides from the polynucleotide of (a), (b), or (c) including nucleotide 446.
An isolated polypeptide comprising the amino acid sequence of SEQ ID NO:
- 7.
A method of screening for potential agents that regulate the activity of the polypeptide of SEQ ID NO:
- 7 in a cell comprising the steps of:
- contacting a cell with a test compound, wherein the cell expresses or overexpresses the polypeptide of SEQ ID NO:
- 7 or a fragment thereof including position 44;
- measuring the level of activity of the polypeptide of SEQ ID NO:
- 7 in the cell, wherein a test compound which increases or decreases the activity of the polypeptide of SEQ ID NO:
- 7 or fragment thereof in the cell is a potential agent that regulates the activity of the polypeptide of SEQ ID NO:
- 7.
An isolated nucleic acid molecule comprising a polynucleotide selected from the group consisting of:
- (a) a polynucleotide coding for a polypeptide consisting of the amino acid sequence of SEQ ID NO:
- 8;
- (b) a degenerate polynucleotide coding for a polypeptide coding for the amino acid sequence of SEQ ID NO:
- 8;
- (c) a polynucleotide complementary to the polynucleotide of (a) or (b);
- and
- (d) a polynucleotide consisting of at least 15 contiguous nucleotides from the polynucleotide of (a), (b), or (c) including nucleotide 446.
An isolated polypeptide comprising the amino acid sequence of SEQ ID NO:
- 8.
A method of screening for potential agents that regulate the activity of the polypeptide of SEQ ID NO:
- 8 in a cell comprising the steps of:
- contacting a cell with a test compound, wherein the cell expresses or overexpresses the polypeptide of SEQ ID NO:
- 8 or a fragment thereof including position 44;
- measuring the level of activity of the polypeptide of SEQ ID NO:
- 8 in the cell, wherein a test compound which increases or decreases the activity of the polypeptide of SEQ ID NO:
- 8 or fragment thereof in the cell is a potential agent that regulates the activity of the polypeptide of SEQ ID NO:
- 8.
An isolated nucleic acid molecule comprising a polynucleotide selected from the group consisting of:
- (a) a polynucleotide coding for a polypeptide consisting of the amino acid sequence of SEQ ID NO:
- 12;
- (b) a degenerate polynucleotide coding for a polypeptide coding for the amino acid sequence of SEQ ID NO:
- 12;
- (c) a polynucleotide complementary to the polynucleotide of (a) or (b);
- and
- (d) a polynucleotide consisting of at least 15 contiguous nucleotides from the polynucleotide of (a), (b), or (c) including nucleotide 320.
An isolated polypeptide comprising the amino acid sequence of SEQ ID NO:
- 12.
A method of screening for potential agents that regulate the activity of the polypeptide of SEQ ID NO:
- 12 in a cell comprising the steps of:
- contacting a cell with a test compound, wherein the cell expresses or overexpresses the polypeptide of SEQ ID NO:
- 12 or a fragment thereof including position 30;
- measuring the level of activity of the polypeptide of SEQ ID NO:
- 12 in the cell, wherein a test compound which increases or decreases the activity of the polypeptide of SEQ ID NO:
- 12 or fragment thereof in the cell is a potential agent that regulates the activity of the polypeptide of SEQ ID NO:
- 12.
Dependencies are inferred from the claim text.