Familial advanced sleep-phase syndrome: a short-period circadian rhythmvariant in humans

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Publication Type Journal Article
School or College School of Medicine; College of Social & Behavioral Science
Department Ophthalmology; Psychiatry; Psychology; Neurology
Creator Jones, Bryan W.; Jones, Christopher R.; Czajkowski, Laura
Other Author Campbell, S. S.; Zone, S. E.; Cooper, F.; DeSano, A.; Murphy, P. J.; Ptacek, L. J.
Title Familial advanced sleep-phase syndrome: a short-period circadian rhythmvariant in humans
Date 1999
Description Biological circadian clocks oscillate with an approximately 24-hour period, are ubiquitous, and presumably confer a selective advantage by anticipating the transitions between day and night. The circadian rhythms of sleep, melatonin secretion and body core temperature are thought to be generated by the suprachiasmatic nucleus of the hypothalamus, the anatomic locus of the mammalian circadian clock. Autosomal semi-dominant mutations in rodents with fast or slow biological clocks (that is, short or long endogenous period lengths; tau) are associated with phase-advanced or delayed sleep-wake rhythms, respectively. These models predict the existence of familial human circadian rhythm variants but none of the human circadian rhythm disorders are known to have a familial tendency. Although a slight 'morning lark' tendency is common, individuals with a large and disabling sleep phase-advance are rare. This disorder, advanced sleep-phase syndrome, is characterized by very early sleep onset and offset; only two cases are reported in young adults. Here we describe three kindreds with a profound phase advance of the sleep-wake, melatonin and temperature rhythms associated with a very short tau. The trait segregates as an autosomal dominant with high penetrance. These kindreds represent a well-characterized familial circadian rhythm variant in humans and provide a unique opportunity for genetic analysis of human circadian physiology.
Type Text
Publisher Nature Publishing Group
Volume 5
Issue 9
First Page 1062
Last Page 1065
Subject Activity Cycles; Matched-Pair Analysis; Polysomnography
Subject MESH Circadian Rhythm; Sleep Disorders; Variation (Genetics)
Language eng
Bibliographic Citation Jones, C. R., Campbell, S. S., Zone, S. E., Cooper, F., DeSano, A., Murphy, P. J., Jones, B., Czajkowski, L., & Ptacek, L. J. (1999). Familial advanced sleep-phase syndrome: A short-period circadian rhythmvariant in humans. Nature Medicine, 5(9), 1062-5.
Rights Management (c) Nature Publishing Group
Format Medium application/pdf
Identifier ir-main,1816
ARK ark:/87278/s6xw53bg
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2021-05-06
ID 705936
Reference URL https://collections.lib.utah.edu/ark:/87278/s6xw53bg
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