Abstract
Sleep deprivation can impair human health and performance. Habitual total sleep time and homeostatic sleep response to sleep deprivation are quantitative traits in humans. Genetic loci for these traits have been identified in model organisms, but none of these potential animal models have a corresponding human genotype and phenotype. We have identified a mutation in a transcriptional repressor (hDEC2-P385R) that is associated with a human short sleep phenotype. Activity profiles and sleep recordings of transgenic mice carrying this mutation showed increased vigilance time and less sleep time than control mice in a zeitgeber time- and sleep deprivation-dependent manner. These mice represent a model of human sleep homeostasis that provides an opportunity to probe the effect of sleep on human physical and mental health.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Activity Cycles / genetics
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Adolescent
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Adult
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Aged
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Amino Acid Sequence
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Amino Acid Substitution
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Animals
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Animals, Genetically Modified
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Basic Helix-Loop-Helix Transcription Factors / chemistry
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Basic Helix-Loop-Helix Transcription Factors / genetics*
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Basic Helix-Loop-Helix Transcription Factors / physiology
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Child
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Circadian Rhythm / genetics
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Drosophila / genetics
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Electroencephalography
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Electromyography
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Female
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Homeostasis
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Humans
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Male
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Mice
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Mice, Knockout
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Mice, Transgenic
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Middle Aged
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Molecular Sequence Data
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Pedigree
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Point Mutation
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Sleep / genetics*
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Sleep / physiology
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Sleep Deprivation
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Sleep, REM / genetics
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Sleep, REM / physiology
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Transcription Factors / chemistry
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Transcription Factors / genetics
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Transcription Factors / physiology
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Wakefulness
Substances
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BHLHE41 protein, human
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Basic Helix-Loop-Helix Transcription Factors
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Bhlhb3 protein, mouse
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Transcription Factors