Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • ASCI Milestone Awards
    • Video Abstracts
    • Conversations with Giants in Medicine
  • Reviews
    • View all reviews ...
    • The cGAS-STING pathway: DNA sensing in health and disease (Jun 2026)
    • Neurodegeneration (Mar 2026)
    • Clinical innovation and scientific progress in GLP-1 medicine (Nov 2025)
    • Pancreatic Cancer (Jul 2025)
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • ASCI Milestone Awards
  • Video Abstracts
  • Conversations with Giants in Medicine
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
Imprints of disease at GNAS1
Marc Lalande
Marc Lalande
View: Text | PDF
Commentary

Imprints of disease at GNAS1

  • Text
  • PDF
Abstract

Authors

Marc Lalande

×

Figure 1

Options: View larger image (or click on image) Download as PowerPoint
Organization and expression of GNAS1. Four first exons (distinct promote...
Organization and expression of GNAS1. Four first exons (distinct promoters) are alternatively spliced to exons 2–13 that are shared by all four transcripts. The NESP55 and Gsα transcripts are expressed from the maternal allele, while the XLαs and exon 1A transcripts display paternal expression. Note that imprinting of GNAS1 is tissue-specific and that the pattern of allelic expression shown here represents that seen in the pituitary. Lollipops correspond to CpG dinucleotides where the C is subject to modification by the addition of a methyl group at the 5′ position. A filled lollipop indicates methylation of a given CpG site, while an open lollipop indicates that the corresponding site on the other allele is not modified. RT-PCR using a primer () in exon 10 generates a product that spans a polymorphism (*) in exon 5 allows the assessment of allelic expression of all four transcripts in pituitary. RT-PCR with the exon 10–specific primer also permits the assay of sites of mutation in exons 8 and 9 (+) for the analysis of Gsα imprinting in pituitary somatotroph tumors.

Copyright © 2026 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts