Physiological dysfunctions associated with mutations of the imprinted Gnas locus

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.