Journal
HORMONE RESEARCH IN PAEDIATRICS
Volume 80, Issue 4, Pages 229-241Publisher
KARGER
DOI: 10.1159/000355384
Keywords
GNAS; Pseudohypoparathyroidism; alpha-Subunit of the stimulatory G protein
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Funding
- National Institute of Diabetes and Digestive and Kidney Diseases
- March of Dimes Foundation
- Milton Fund
- European Society for Paediatric Endocrinology through Lilly USA, LLC.
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK073911] Funding Source: NIH RePORTER
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GNAS is a complex imprinted locus leading to several different gene products that show exclusive monoallelic expression. GNAS also encodes the a-subunit of the stimulatory G protein (Gs alpha), a ubiquitously expressed signaling protein that is essential for the actions of many hormones and other endogenous molecules. Gsa is expressed biallelically in most tissues but its expression is silenced from the paternal allele in a small number of tissues. The tissue-specific paternal silencing of Gsa results in different parent-of-origin-specific phenotypes in patients who carry inactivating GNAS mutations. In this paper, we review the GNAS complex locus and discuss how disruption of Gsa expression and the expression of other GNAS products shape the phenotypes of human disorders caused by mutations in this gene. (C) 2013 S. Karger AG, Basel
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