Mutations in Rab3a alter circadian period and homeostatic response to sleep loss in the mouse

Nat Genet. 2002 Oct;32(2):290-5. doi: 10.1038/ng991. Epub 2002 Sep 16.

Abstract

Rab3a is the most abundant Rab (ras-associated binding) protein in the brain and has a regulatory role in synaptic vesicle trafficking. Mice with a targeted loss-of-function mutation in Rab3a have defects in Ca(2+)-dependent synaptic transmission: the number of vesicles released in response to an action potential is greater than in wildtype mice, resulting in greater synaptic depression and the abolishment of CA3 mossy-fiber long term potentiation. The effect of these changes on behavior is unknown. In a screen for mouse mutants with abnormal rest-activity and sleep patterns, we identified a semidominant mutation, called earlybird, that shortens the circadian period of locomotor activity. Sequence analysis of Rab3a identified a point mutation in the conserved amino acid (Asp77Gly) within the GTP-binding domain of this protein in earlybird mutants, resulting in significantly reduced levels of Rab3a protein. Phenotypic assessment of earlybird mice and a null allele of Rab3a revealed anomalies in circadian period and sleep homeostasis, providing evidence that Rab3a-mediated synaptic transmission is involved in these behaviors.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Blotting, Western
  • Circadian Rhythm / genetics*
  • Ethylnitrosourea
  • Female
  • Homeostasis
  • Locomotion / genetics
  • Locomotion / physiology
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Point Mutation*
  • Sleep Deprivation / physiopathology*
  • Sleep Wake Disorders / genetics
  • rab3A GTP-Binding Protein / genetics*
  • rab3A GTP-Binding Protein / physiology

Substances

  • rab3A GTP-Binding Protein
  • Ethylnitrosourea