An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
Publication
, Journal Article
Toh, KL; Jones, CR; He, Y; Eide, EJ; Hinz, WA; Virshup, DM; Ptácek, LJ; Fu, YH
Published in: Science
February 9, 2001
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.
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Published In
Science
DOI
ISSN
0036-8075
Publication Date
February 9, 2001
Volume
291
Issue
5506
Start / End Page
1040 / 1043
Location
United States
Related Subject Headings
- Transcription Factors
- Sleep Disorders, Circadian Rhythm
- Serine
- Proteins
- Protein Kinases
- Polymorphism, Single-Stranded Conformational
- Phosphorylation
- Period Circadian Proteins
- Pedigree
- Nuclear Proteins
Citation
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ICMJE
MLA
NLM
Toh, K. L., Jones, C. R., He, Y., Eide, E. J., Hinz, W. A., Virshup, D. M., … Fu, Y. H. (2001). An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science, 291(5506), 1040–1043. https://doi.org/10.1126/science.1057499
Toh, K. L., C. R. Jones, Y. He, E. J. Eide, W. A. Hinz, D. M. Virshup, L. J. Ptácek, and Y. H. Fu. “An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.” Science 291, no. 5506 (February 9, 2001): 1040–43. https://doi.org/10.1126/science.1057499.
Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, et al. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science. 2001 Feb 9;291(5506):1040–3.
Toh, K. L., et al. “An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.” Science, vol. 291, no. 5506, Feb. 2001, pp. 1040–43. Pubmed, doi:10.1126/science.1057499.
Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptácek LJ, Fu YH. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science. 2001 Feb 9;291(5506):1040–1043.
Published In
Science
DOI
ISSN
0036-8075
Publication Date
February 9, 2001
Volume
291
Issue
5506
Start / End Page
1040 / 1043
Location
United States
Related Subject Headings
- Transcription Factors
- Sleep Disorders, Circadian Rhythm
- Serine
- Proteins
- Protein Kinases
- Polymorphism, Single-Stranded Conformational
- Phosphorylation
- Period Circadian Proteins
- Pedigree
- Nuclear Proteins