The transcriptional repressor DEC2 regulates sleep length in mammals.
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.
He
Ying
Y
Department of Neurology, University of California at San Francisco, Mission Bay, 1550 Fourth Street, San Francisco, CA 94158, USA.
Jones
Christopher R
CR
Fujiki
Nobuhiro
N
Xu
Ying
Y
Guo
Bin
B
Holder
Jimmy L
JL
Rossner
Moritz J
MJ
Nishino
Seiji
S
Fu
Ying-Hui
YH
D000204:Activity Cycles / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D030801:Animals, Genetically Modified; D051792:Basic Helix-Loop-Helix Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D002648:Child; D002940:Circadian Rhythm / Q000235:genetics; D004330:Drosophila / Q000235:genetics; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D006706:Homeostasis; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D012890:Sleep / Q000235:genetics* / Q000502:physiology; D012892:Sleep Deprivation; D012895:Sleep, REM / Q000235:genetics / Q000502:physiology; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D014851:Wakefulness
D051792:Basic Helix-Loop-Helix Proteins; D014157:Transcription Factors; C422085:BHLHE41 protein, human; C470968:Bhlhb3 protein, mouse
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