| First Author | Toh KL | Year | 2001 |
| Journal | Science | Volume | 291 |
| Issue | 5506 | Pages | 1040-3 |
| PubMed ID | 11232563 | Mgi Jnum | J:67286 |
| Mgi Id | MGI:1930343 | Doi | 10.1126/science.1057499 |
| Citation | Toh KL, et al. (2001) An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science 291(5506):1040-3 |
| abstractText | 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. |
