Advanced sleep phase syndrome gen in humans
First Claim
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1. A method of diagnosing Familial Advanced Sleep Phase Syndrome in a human subject comprising:
- screening for an alteration in a germline copy of the hPer2 gene of the human subject, wherein the detection of an alteration in the germline copy of the hPer2 gene of the human subject indicates a positive diagnosis of Familial Advanced Sleep Phase Syndrome in the human subject.
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Abstract
The present invention includes the disclosure of the hPER2 gene and a mutant of the hPER2 gene that participates in the human circadian biological clock. The product of the mutant hPER2 gene found in some familial advanced sleep phase syndrome patients is hypophosphorylated by casein kinase epsilon due to the serine-to-glycine mutation caused by the point mutation of the genomic sequence. Specifically, this serine-to-glycine mutation affects the casein kinase epsilon binding region of the hPER2 protein, thus blocking the phosphorylation cascade ordinarily caused by the binding of casein kinase epsilon to hPER2.
17 Citations
46 Claims
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1. A method of diagnosing Familial Advanced Sleep Phase Syndrome in a human subject comprising:
screening for an alteration in a germline copy of the hPer2 gene of the human subject, wherein the detection of an alteration in the germline copy of the hPer2 gene of the human subject indicates a positive diagnosis of Familial Advanced Sleep Phase Syndrome in the human subject. - View Dependent Claims (2, 3, 4, 5)
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6. A method of diagnosing Familial Advanced Sleep Phase Syndrome in a human subject comprising:
screening for an alteration in the hPer2 polypeptide of the human subject, wherein the detection of an alteration in hPer2 polypeptide of the human subject indicates a positive diagnosis of Familial Advanced Sleep Phase Syndrome in the human subject. - View Dependent Claims (7, 8, 9, 10)
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11. A method of diagnosing Familial Advanced Sleep Phase Syndrome in a human subject comprising:
screening for hypophosphorylation of hPer2 polypeptides of the human subject, wherein the detection of hypophosphorylation of hPer2 polypeptides of the human subject indicates a positive diagnosis of Familial Advanced Sleep Phase Syndrome in the human subject. - View Dependent Claims (12, 13)
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14. A method of screening for inhibitors of casein kinase epsilon comprising the steps of:
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contacting a potential inhibitor of casein kinase I epsilon with casein kinase I epsilon in the presence of hPER2 and phosphates;
measuring the level of phosphorylation of the hPER2, wherein a level of phosphorylation observed with the potential inhibitor lower than a level of phosphorylation observed when casein kinase I epsilon is contacted with hPER2 and phosphates without the potential inhibitor signals an inhibitor of casein kinase I epsilon. - View Dependent Claims (15, 16)
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17. A method of screening for compounds which upregulate the phosphorylation of hPER2 by casein kinase I epsilon comprising the steps of:
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contacting a potential upregulating compound with casein kinase I epsilon in the presence of hPER2 and phosphates;
measuring the level of phosphorylation of the hPER2, wherein a level of phosphorylation observed with the potential upregulating compound higher than a level of phosphorylation observed when casein kinase I epsilon is contacted with hPER2 and phosphates without the potential upregulating compound signals an upregulating compound for casein kinase I epsilon. - View Dependent Claims (18, 19)
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20. An isolated and purified nucleic acid molecule comprising a nucleotide sequence which encodes an amino acid sequence at least 80% identical to the amino acid sequence of SEQ ID NO:
- 1.
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21. An isolated and purified nucleic acid molecule comprising a nucleotide sequence which encodes an amino acid sequence at least 90% identical to the amino acid sequence of SEQ ID NO:
- 1.
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22. An isolated and purified nucleic acid molecule comprising a nucleotide sequence which encodes an amino acid sequence at least 95% identical to the amino acid sequence of SEQ ID NO:
- 1.
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23. An isolated and purified nucleic acid molecule comprising a nucleotide sequence which encodes the amino acid sequence of SEQ ID NO:
- 1.
- 24. An isolated nucleic acid molecule having the sequence found in SEQ. ID NO:
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29. A method for treating advanced sleep phase syndrome of aging in a human subject comprising administering AzaC to the human subject.
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30. A method for treating advanced sleep phase syndrome of aging in a human subject comprising administering a histone deacetylase inhibitor to the subject.
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31. A method of screening for inhibitors of casein kinase I delta comprising the steps of:
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contacting a potential inhibitor of casein kinase I delta with casein kinase I delta in the presence of hPER2 and phosphates;
measuring the level of phosphorylation of the hPER2, wherein a level of phosphorylation observed with the potential inhibitor lower than a level of phosphorylation observed when casein kinase delta is contacted with hPER2 and phosphates without the potential inhibitor signals an inhibitor of casein kinase I delta. - View Dependent Claims (32, 33)
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34. A method of screening for compounds which upregulate the phosphorylation of hPER2 by casein kinase I delta comprising the steps of:
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contacting a potential upregulating compound with casein kinase I delta in the presence of hPER2 and phosphates;
measuring the level of phosphorylation of the hPER2, wherein a level of phosphorylation observed with the potential upregulating compound higher than a level of phosphorylation observed when casein kinase I delta is contacted with hPER2 and phosphates without the potential upregulating compound signals an upregulating compound for casein kinase I delta. - View Dependent Claims (35, 36)
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37. A method of screening for compounds that inhibit the phosphorylation of hPER2 comprising the steps of:
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contacting a potential inhibitor of the phosphorylation of hPER2 with hPER2 in the presence of a kinase and phosphates;
measuring the level of phosphorylation of the hPER2, wherein a level of phosphorylation observed with the potential inhibitor of the phosphorylation of hPER2 lower than a level of phosphorylation observed when hPER2 is contacted with a kinase and phosphates without the potential inhibitor of the phosphorylation of hPER2 signals an inhibitor of the phosphorylation of hPER2. - View Dependent Claims (38, 39, 40, 41, 43, 44)
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42. A method of screening for compounds that upregulate the phosphorylation of hPER2 comprising the steps of:
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contacting a potential upregulating compound of the phosphorylation of hPER2 with hPER2 in the presence of a kinase and phosphates;
measuring the level of phosphorylation of the hPER2, wherein a level of phosphorylation observed with the potential upregulating compound of the phosphorylation of hPER2 higher than a level of phosphorylation observed when hPER2 is contacted with a kinase and phosphates without the potential upregulating compound of the phosphorylation of hPER2 signals an upregulating compound for the phosphorylation of hPER2. - View Dependent Claims (45, 46)
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Specification