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The biological clock is involved in many aspects of regulating complex physiology in all animals. It was in 1935 when German zoologists, Hans Kalmus and Erwin Bünning, discovered the existence of circadian rhythm in Drosophila melanogaster. However, the internal molecular mechanisms behind the circadian clock remained a mystery until 1984, when Jeffrey C. Hall, Michael Rosbash, and Michael W. Young discovered the expression of the Per gene oscillating over a 24-hour cycle. In subsequent...
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Human Circadian Phenotyping and Diurnal Performance Testing in the Real World
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Natural Variation in Human Clocks.

Malcolm von Schantz1

  • 1Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.

Advances in Genetics
|October 21, 2017
PubMed
Summary
This summary is machine-generated.

Human circadian rhythms are influenced by genetics, with studies identifying specific genes linked to sleep patterns and chronotype. Further research is needed across diverse populations to understand this polygenic trait.

Keywords:
ChronotypeCircadian rhythmsClock genesGenetic association studyGenome-wide association studySleep disorders

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Area of Science:

  • Chronobiology
  • Human Genetics
  • Sleep Science

Background:

  • Human circadian rhythms exhibit a diurnal pattern with an average period of 24.2 hours.
  • Chronotype questionnaires are used as a proxy for precise circadian period determination.
  • Circadian rhythms are influenced by a polygenic trait with mapped genetic components.

Purpose of the Study:

  • To explore the genetic underpinnings of human circadian rhythms and chronotype.
  • To identify candidate genes and genetic polymorphisms associated with circadian period and sleep phase disorders.
  • To review recent genome-wide association studies (GWAS) on chronotype.

Main Methods:

  • Candidate gene approach to investigate genetic polymorphisms.
  • Analysis of familial circadian rhythm sleep disorders.
  • Genome-wide association studies (GWAS) of chronotype.

Main Results:

  • Mutations in PER2, CRY2, CSNK1D, and CRY1 genes are linked to advanced and delayed sleep phase disorders.
  • Candidate gene studies identified associations between specific genes and chronotype.
  • GWAS confirmed PER2 associations and identified novel genes influencing circadian rhythm variability.

Conclusions:

  • Significant progress has been made in mapping the genetic basis of human circadian rhythm diversity.
  • The stability of the core circadian clock mechanism, involving period and cryptochrome proteins, is crucial for periodicity.
  • There is a critical need for research on circadian rhythms and genetics in non-European populations.