title: Genetics of sleep and sleep disorders.
abstract: Sleep remains one of the least understood phenomena in biology--even its role in synaptic plasticity remains debatable. Since sleep was recognized to be regulated genetically, intense research has launched on two fronts: the development of model organisms for deciphering the molecular mechanisms of sleep and attempts to identify genetic underpinnings of human sleep disorders. In this Review, we describe how unbiased, high-throughput screens in model organisms are uncovering sleep regulatory mechanisms and how pathways, such as the circadian clock network and specific neurotransmitter signals, have conserved effects on sleep from Drosophila to humans. At the same time, genome-wide association studies (GWAS) have uncovered ∼14 loci increasing susceptibility to sleep disorders, such as narcolepsy and restless leg syndrome. To conclude, we discuss how these different strategies will be critical to unambiguously defining the function of sleep.
authors.affiliation: Howard Hughes Medical institute, Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. amita@mail.med.upenn.edu
authors.forename: Amita
authors.initials: A
authors.lastname: Sehgal
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Mignot
mesh_terms: D000818:Animals; D057906:Circadian Clocks; D055106:Genome-Wide Association Study; D006801:Humans; D023421:Models, Animal; D009419:Nerve Tissue Proteins / Q000502:physiology; D018377:Neurotransmitter Agents / Q000378:metabolism; D015398:Signal Transduction; D012890:Sleep / Q000235:genetics* / Q000502:physiology; D012893:Sleep Wake Disorders / Q000235:genetics* / Q000503:physiopathology
chemical_list: D009419:Nerve Tissue Proteins; D018377:Neurotransmitter Agents