| http://purl.uniprot.org/citations/15800623 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15800623 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15800623 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype characterized by early sleep times and early-morning awakening. It was the first human, mendelian circadian rhythm variant to be well-characterized, and was shown to result from a mutation in a phosphorylation site within the casein kinase I (CKI)-binding domain of the human PER2 gene. To gain a deeper understanding of the mechanisms of circadian rhythm regulation in humans, we set out to identify mutations in human subjects leading to FASPS. We report here the identification of a missense mutation (T44A) in the human CKIdelta gene, which results in FASPS. This mutant kinase has decreased enzymatic activity in vitro. Transgenic Drosophila carrying the human CKIdelta-T44A gene showed a phenotype with lengthened circadian period. In contrast, transgenic mice carrying the same mutation have a shorter circadian period, a phenotype mimicking human FASPS. These results show that CKIdelta is a central component in the mammalian clock, and suggest that mammalian and fly clocks might have different regulatory mechanisms despite the highly conserved nature of their individual components."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature03453"xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature03453"xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Xu Y."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Xu Y."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Wu S.C."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Wu S.C."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Jones C.R."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Jones C.R."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Fu Y.H."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Fu Y.H."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Ptacek L.J."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Ptacek L.J."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Saigoh K."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Saigoh K."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Shapiro R.E."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Shapiro R.E."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Padiath Q.S."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Padiath Q.S."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Saigoh N."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/author | "Saigoh N."xsd:string |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/15800623 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |