University of Surrey

Test tubes in the lab Research in the ATI Dance Research

Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters

von Schantz, Malcolm (1998) Phenotypic effects of genetic variability in human clock genes on circadian and sleep parameters Journal of Genetics, 87 (5). pp. 513-519.

[img] Text
JGEN-D-08-00208.pdf - Accepted version Manuscript
Restricted to Repository staff only

Download (411kB)


Circadian rhythms and sleep are two separate but intimately related processes. Circadian rhythms are generated through the precisely controlled, cyclic expression of a number of genes designated clock genes. Genetic variability in these genes has been associated with a number of phenotypic differences in circadian, but also in sleep parameters both in mouse models and in humans. Diurnal preferences, as determined by the self-reported Horne-Östberg questionnaire, has been associated with polymorphisms in the human genes CLOCK, PER1, PER2, and PER3. Circadian rhythms sleep disorders have also been associated with mutations and polymorphisms in clock genes, with the advanced type cosegrating in an autosomal dominant inheritance pattern with mutations in the genes PER2 and CSNK1D, and the delayed type associating without discernible Mendelian inheritance with polymorphisms in CLOCK and PER3. Several mouse models of clock gene null alleles have been demonstrated to have affected sleep homeostasis. Recent findings have shown that the variable number tandem polymorphism in PER3, previously linked to diurnal preference, has profound effects on sleep homeostasis and cognitive performance following sleep loss, confirming the close association between the processes of circadian rhythms and sleep on the genetic level.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Biosciences and Medicine > Department of Biochemical Sciences
Authors :
von Schantz,
Date : December 1998
Uncontrolled Keywords : Circadian rhythms Mutations Polymorphisms Sleep disorders Transcription factors
Depositing User : Malcolm von Schantz
Date Deposited : 28 Mar 2017 13:22
Last Modified : 06 Jul 2019 05:13

Actions (login required)

View Item View Item


Downloads per month over past year

Information about this web site

© The University of Surrey, Guildford, Surrey, GU2 7XH, United Kingdom.
+44 (0)1483 300800