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Physiology 23: 221-229, 2008; doi:10.1152/physiol.00010.2008
1548-9213/08 $8.00
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Physiology, Vol. 23, No. 4, 221-229, August 2008
© 2008 Int. Union Physiol. Sci./Am. Physiol. Soc.

REVIEW

Physiological Dysfunctions Associated with Mutations of the Imprinted Gnas Locus

Stefan Krechowec and Antonius Plagge

Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Liverpool, United Kingdom a.plagge{at}liv.ac.uk

The ubiquitous G{alpha}s-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 G{alpha}s-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 G{alpha}s and XL{alpha}s as determined from deficient mouse models.






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