An h Per2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome
| العنوان: | An h Per2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome |
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| المؤلفون: | David M. Virshup, Christopher R. Jones, Erik J. Eide, Ying-Hui Fu, Yan He, Kong L. Toh, William A. Hinz, Louis J. Ptáček |
| المصدر: | Science. 291:1040-1043 |
| بيانات النشر: | American Association for the Advancement of Science (AAAS), 2001. |
| سنة النشر: | 2001 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Familial advanced sleep phase syndrome, Genetic Linkage, Period (gene), Molecular Sequence Data, Glycine, Mutation, Missense, Biology, Doubletime, Biological Clocks, Sleep Disorders, Circadian Rhythm, Internal medicine, Serine, medicine, Animals, Humans, Missense mutation, Free-running sleep, Amino Acid Sequence, Phosphorylation, Polymorphism, Single-Stranded Conformational, Genetics, Binding Sites, Multidisciplinary, Advanced sleep phase disorder, Chromosome Mapping, Nuclear Proteins, Proteins, Exons, Period Circadian Proteins, medicine.disease, Circadian Rhythm, Pedigree, Circadian rhythm sleep disorder, PER3, Endocrinology, Amino Acid Substitution, Chromosomes, Human, Pair 2, Female, Casein Kinases, Protein Kinases, Transcription Factors |
| الوصف: | Familial advanced sleep phase syndrome (FASPS) is an autosomal dominant circadian rhythm variant; affected individuals are “morning larks” with a 4-hour advance of the sleep, temperature, and melatonin rhythms. Here we report localization of the FASPS gene near the telomere of chromosome 2q. A strong candidate gene (h Per2 ), a human homolog of the period gene in Drosophila , maps to the same locus. Affected individuals have a serine to glycine mutation within the casein kinase I ɛ (CKI ɛ ) binding region of hPER2, which causes hypophosphorylation by CKI ɛ in vitro. Thus, a variant in human sleep behavior can be attributed to a missense mutation in a clock component, hPER2, which alters the circadian period. |
| تدمد: | 1095-9203 0036-8075 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e578a39b9f709fafe45a5a46c542db2eTest https://doi.org/10.1126/science.1057499Test |
| رقم الانضمام: | edsair.doi.dedup.....e578a39b9f709fafe45a5a46c542db2e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10959203 00368075 |
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