Science (American Association for the Advancement of Science), 2001-02, Vol.291 (5506), p.1040-1043
2001
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Details
- Autor(en) / Beteiligte
- Titel
- An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome
- Ist Teil von
- Science (American Association for the Advancement of Science), 2001-02, Vol.291 (5506), p.1040-1043
- Ort / Verlag
- Washington, DC: American Society for the Advancement of Science
- Erscheinungsjahr
- 2001
- Quelle
- American Association for the Advancement of Science
- Beschreibungen/Notizen
- 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 (hPer2), 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 lε (CKIε) binding region of hPER2, which causes hypophosphorylation by CKIε 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0036-8075eISSN: 1095-9203DOI: 10.1126/science.1057499Titel-ID: cdi_proquest_miscellaneous_743325774
- Format
- –
- Schlagworte
- Alleles, Amino Acid Sequence, Amino Acid Substitution, Amino acids, Animals, Binding Sites, Biochemistry, Biological and medical sciences, Biological Clocks - genetics, Casein Kinases, chromosome 2, Chromosome Mapping, Chromosomes, Chromosomes, Human, Pair 2 - genetics, Circadian rhythm, Circadian Rhythm - genetics, Cultural Influences, Exons, Family (Sociological Unit), Feedback (Response), Female, Genes, Genetic Linkage, Genetic loci, Genetic mutation, Genetic research, Genetics, Genomics, Glycine, Human acts, Human behavior, Humans, Insects, Male, Medical sciences, Molecular Sequence Data, Mutation, Mutation, Missense, Nervous system (semeiology, syndromes), Nervous system as a whole, Neurology, Nuclear Proteins - chemistry, Nuclear Proteins - genetics, Nuclear Proteins - metabolism, Pedigree, Period Circadian Proteins, period gene, Phosphorylation, Polymerase chain reaction, Polymorphism, Single-Stranded Conformational, Protein Kinases - metabolism, Proteins - chemistry, Proteins - genetics, Proteins - metabolism, Serine, Sleep, Sleep disorders, Sleep Disorders, Circadian Rhythm - genetics, Sleep Disorders, Circadian Rhythm - physiopathology, Transcription Factors