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Rhythm disorder alleles

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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Weitzman, J.B. Rhythm disorder alleles. Genome Biol 2, spotlight-20010424-02 (2001). https://doi.org/10.1186/gb-spotlight-20010424-02

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Keywords

  • Sequence Variation
  • Circadian Rhythm
  • Genetic Polymorphism
  • Amino Acid Change
  • Clock Gene