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Rhythm disorder alleles

Jonathan B Weitzman

Genome Biology 2001, 2:spotlight-20010424-02  doi:10.1186/gb-spotlight-20010424-02

The electronic version of this article is the complete one and can be found online at:


Published:24 April 2001

© 2001 BioMed Central Ltd

Research news

The genes that regulate circadian rhythms have been genetically characterized in flies and mice. In the April issue of EMBO Reports, Ebisawa et al. describe a screen for genetic polymorphisms associated with human circadian rhythm disorders (EMBO Reports 2001, 2:342-346). They performed a PCR-based analysis of the human period3 gene (hPer3), a homolog of a Drosophila clock gene, and identified 20 sequence variations, of which six predicted amino acid changes. Ebisawa et al. defined four haplotypes for the hPer3 gene. Screening a group of 48 patients with delayed sleep phase syndrome (DSPS), they discovered that the H4 haplotype was associated with DSPS in approx 15% of cases. The authors speculate that a structural polymorphism may affect hPer3 phosphorylation, causing DSPS susceptibility.

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  4. Delayed sleep phase syndrome: a review of its clinical aspects.

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