Genetic insights on sleep schedules: this time, it's PERsonal

Trends Genet. 2012 Dec;28(12):598-605. doi: 10.1016/j.tig.2012.08.002. Epub 2012 Aug 28.

Abstract

The study of circadian rhythms is emerging as a fruitful opportunity for understanding cellular mechanisms that govern human physiology and behavior, fueled by evidence directly linking sleep disorders to genetic mutations affecting circadian molecular pathways. Familial advanced sleep-phase disorder (FASPD) is the first recognized Mendelian circadian rhythm trait, and affected individuals exhibit exceptionally early sleep-wake onset due to altered post-translational regulation of period homolog 2 (PER2). Behavioral and cellular circadian rhythms are analogously affected because the circadian period length of behavior is reduced in the absence of environmental time cues, and cycle duration of the molecular clock is likewise shortened. In light of these findings, we review the PER2 dynamics in the context of circadian regulation to reveal the mechanism of sleep-schedule modulation. Understanding PER2 regulation and functionality may shed new light on how our genetic composition can influence our sleep-wake behaviors.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Nucleus / metabolism
  • Cytoplasm / metabolism
  • Drosophila Proteins / genetics
  • Drosophila Proteins / metabolism
  • Epigenesis, Genetic*
  • Gene Expression Regulation
  • Humans
  • Mutation
  • Period Circadian Proteins / genetics
  • Period Circadian Proteins / metabolism*
  • Phosphorylation
  • Protein Processing, Post-Translational
  • Protein Transport
  • Sleep Disorders, Circadian Rhythm / genetics*
  • Wakefulness / genetics

Substances

  • Drosophila Proteins
  • PER protein, Drosophila
  • PER2 protein, human
  • Period Circadian Proteins