Publication Date:
2001-03-10
Description:
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 Iepsilon (CKIepsilon) binding region of hPER2, which causes hypophosphorylation by CKIepsilon 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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Toh, K L -- Jones, C R -- He, Y -- Eide, E J -- Hinz, W A -- Virshup, D M -- Ptacek, L J -- Fu, Y H -- HL/HD 59596/HL/NHLBI NIH HHS/ -- M01-RR00064/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 2001 Feb 9;291(5506):1040-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11232563" target="_blank"〉PubMed〈/a〉
Keywords:
Amino Acid Sequence
;
Amino Acid Substitution
;
Animals
;
Binding Sites
;
Biological Clocks/*genetics
;
Casein Kinases
;
Chromosome Mapping
;
Chromosomes, Human, Pair 2/genetics
;
Circadian Rhythm/*genetics
;
Exons
;
Female
;
Genetic Linkage
;
Glycine
;
Humans
;
Male
;
Molecular Sequence Data
;
Mutation, Missense
;
Nuclear Proteins/chemistry/*genetics/*metabolism
;
Pedigree
;
Period Circadian Proteins
;
Phosphorylation
;
Polymorphism, Single-Stranded Conformational
;
Protein Kinases/metabolism
;
Proteins/chemistry/*genetics/*metabolism
;
Serine
;
Sleep Disorders, Circadian Rhythm/*genetics/physiopathology
;
Transcription Factors
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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