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Citations to this article

Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
Bruce E. Hayward, … , Alain Enjalbert, David T. Bonthron
Bruce E. Hayward, … , Alain Enjalbert, David T. Bonthron
Published March 15, 2001
Citation Information: J Clin Invest. 2001;107(6):R31-R36. https://doi.org/10.1172/JCI11887.
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Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly

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Abstract

Approximately 40% of growth hormone–secreting pituitary adenomas have somatic mutations in the GNAS1 gene (the so-called gsp oncogene). These mutations at codon 201 or codon 227 constitutively activate the α subunit of the adenylate cyclase–stimulating G protein Gs. GNAS1 is subject to a complex pattern of genomic imprinting, its various promoters directing the production of maternally, paternally, and biallelically derived gene products. Transcripts encoding Gsα are biallelically derived in most human tissues. Despite this, we show here that in 21 out of 22 gsp-positive somatotroph adenomas, the mutation had occurred on the maternal allele. To investigate the reason for this allelic bias, we also analyzed GNAS1 imprinting in the normal adult pituitary and found that Gsα is monoallelically expressed from the maternal allele in this tissue. We further show that this monoallelic expression of Gsα is frequently relaxed in somatotroph tumors, both in those that have gsp mutations and in those that do not. These findings imply a possible role for loss of Gsα imprinting during pituitary somatotroph tumorigenesis and also suggest that Gsα imprinting is regulated separately from that of the other GNAS1 products, NESP55 and XLαs, imprinting of which is retained in these tumors.

Authors

Bruce E. Hayward, Anne Barlier, Márta Korbonits, Ashley B. Grossman, Philippe Jacquet, Alain Enjalbert, David T. Bonthron

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2005 2004 2003 2001 Total
Citations: 1 4 4 1 8 4 4 6 4 1 6 4 6 8 6 6 4 3 6 6 2 4 1 99
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2010 (6)

Title and authors Publication Year
Increasing alternative promoter repertories is positively associated with differential expression and disease susceptibility
S Liu
PloS one 2010
The activating mutation R201C in GNAS promotes intestinal tumourigenesis in Apc(Min/+) mice through activation of Wnt and ERK1/2 MAPK pathways
CH Wilson, RE McIntyre, MJ Arends, DJ Adams
Oncogene 2010
Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright Syndrome and fibrous dysplasia of bone
V Mariot, JY Wu, C Aydin, G Mantovani, MJ Mahon, A Linglart, M Bastepe
Bone 2010
Skeletal progenitors and the GNAS gene: fibrous dysplasia of bone read through stem cells
M Riminucci, PG Robey, I Saggio, P Bianco
Journal of Molecular Endocrinology 2010
Bone mineral density in pseudohypoparathyroidism type 1a
DN Long, MA Levine, EL Germain-Lee
The Journal of clinical endocrinology and metabolism 2010
Retrotransposition and genomic imprinting
M Cowley, RJ Oakey
Briefings in Functional Genomics 2010

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