Physiology (Bethesda). 2008 Aug;23:221-9.

Physiological dysfunctions associated with mutations of the imprinted Gnas locus.

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Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Liverpool, United Kingdom.

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.

PMID:: 18697996; [PubMed - indexed for MEDLINE]

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Review Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. [J Endocrinol. 2008]
Review Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.
Plagge A, Kelsey G, Germain-Lee EL. J Endocrinol. 2008 Feb; 196(2):193-214.
Review Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. [Endocr Rev. 2001]
Review Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
Weinstein LS, Yu S, Warner DR, Liu J. Endocr Rev. 2001 Oct; 22(5):675-705.
Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. [Genomics. 2000]
Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus.
Li T, Vu TH, Zeng ZL, Nguyen BT, Hayward BE, Bonthron DT, Hu JF, Hoffman AR. Genomics. 2000 Nov 1; 69(3):295-304.
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets. [J Clin Endocrinol Metab. 2008]
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
Freson K, Izzi B, Labarque V, Van Helvoirt M, Thys C, Wittevrongel C, Bex M, Bouillon R, Godefroid N, Proesmans W, et al. J Clin Endocrinol Metab. 2008 Dec; 93(12):4851-9. Epub 2008 Sep 23.
Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. [Proc Natl Acad Sci U S A. 2005]
Alternative Gnas gene products have opposite effects on glucose and lipid metabolism.
Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, Nackers LM, Lorenzo J, Shen L, Weinstein LS. Proc Natl Acad Sci U S A. 2005 May 17; 102(20):7386-91. Epub 2005 May 9.

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Cited by 1 PubMed Central article

DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα)-encoding (GNAS) genomic imprinting domain are associated with performance traits. [BMC Genet. 2011]
DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα)-encoding (GNAS) genomic imprinting domain are associated with performance traits.
Sikora KM, Magee DA, Berkowicz EW, Berry DP, Howard DJ, Mullen MP, Evans RD, Machugh DE, Spillane C. BMC Genet. 2011 Jan 7; 12:4. Epub 2011 Jan 7.

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