Human sleep behaviors Ying-Hui Fu

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1 human sleep behaviors

1.1 circadian rhythms , metabolism
1.2 familial advanced sleep phase syndrome
1.3 short sleep phenotype





human sleep behaviors
circadian rhythms , metabolism

fu had training in molecular biology , human genetics, became interested in circadian rhythms in 1996 when woman came sleep clinic @ university of utah, complaining had go bed , wake early. woman , family become subject of study fu , collaborator louis ptacek familial advanced sleep phase syndrome (fasps). cloned causative gene/mutation , studied in vitro biochemical consequences of mutation, culminating in 2001 paper hper2 phosphorylation site mutation in familial advanced sleep-phase syndrome, reporting first circadian gene mutation in humans.


familial advanced sleep phase syndrome

in 2001, fu , collaborator s labs published paper explained phenotype of extremely risers in humans called familial advanced sleep phase syndrome (fasps). humans autosomal dominant disease typically go bed around 7:00 p.m. , wake @ 3:00 a.m. lab studied genomes of people trait , found point mutation in per2 gene causes behavioral phenotype.


short sleep phenotype

in 2009, fu’s group published paper explained mechanisms of short sleep phenotype in humans. in 1 family, carriers of autosomal dominant phenotype sleep 6.25 hours compared non-carrying family members, sleep more 8 hours per night. fu traced phenotype point mutation in gene called dec2 associated short sleep phenotype in humans. mutant dec2 has proline-to-arginine switch @ amino acid position 384, causes short sleep phenotype. transgenic mice , flies mutant dec2 showed similar phenotypes. not known other molecules dec2 interacts produce short sleep phenotype.








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