2001/02/09 by Kong Leong Toh, Christopher R. Jones, Yan He +5 · 1,476 citations
Neuroscience · Medicine · #Circadian rhythm and melatonin #Neurobiology and Insect Physiology Research #Circadian rhythm #Missense mutation #PER2 #Biology #Genetics #Circadian clock #CLOCK #Free-running sleep #Gene #Endocrinology #Mutation #Internal medicine #Medicine #Light effects on circadian rhythm
paper · doi:10.1126/science.1057499
published in Science 291(5506), 1040-1043 (American Association for the Advancement of Science)
openalex publication_date 2001/02/09 · openalex created_date 2016/06/24 · openalex updated_date 2026/08/01
Familial advanced sleep phase syndrome (FASPS) is an autosomal dominant circadian rhythm variant; affected individuals are "morning larks" with a 4-hour advance of the sleep, temperature, and melatonin rhythms. Here we report localization of the FASPS gene near the telomere of chromosome 2q. A strong candidate gene (hPer2), a human homolog of the period gene in Drosophila, maps to the same locus. Affected individuals have a serine to glycine mutation within the casein kinase Iepsilon (CKIepsilon) binding region of hPER2, which causes hypophosphorylation by CKIepsilon in vitro. Thus, a variant in human sleep behavior can be attributed to a missense mutation in a clock component, hPER2, which alters the circadian period.