Physiological dysfunctions associated with mutations of the imprinted Gnas locus

Physiology (Bethesda). 2008 Aug:23:221-9. doi: 10.1152/physiol.00010.2008.

Abstract

The ubiquitous Galphas-subunit of the trimeric, stimulatory G-protein plays a central role in receptor-mediated signal transduction, coupling receptor activation with the production of cAMP. The Galphas-encoding locus Gnas is now known to consist of a complex arrangement of several protein-coding and noncoding transcripts. We provide an overview of its genomic organization, its regulation by genomic imprinting, and a summary of the physiological roles of the alternative protein variants Galphas and XLalphas as determined from deficient mouse models.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromogranins
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • GTP-Binding Protein alpha Subunits, Gs / metabolism
  • Genomic Imprinting / physiology*
  • Humans
  • Mice
  • Mutation
  • Signal Transduction / physiology*

Substances

  • Chromogranins
  • GNAS protein, human
  • Gnas protein, mouse
  • GTP-Binding Protein alpha Subunits, Gs