GNAS locus: bone related diseases and mouse models.

Abstract

GNASis a complex locus characterized by multiple transcripts and an imprinting effect. It orchestrates a variety of physiological processes via numerous signaling pathways. Human diseases associated with the GNAS gene encompass fibrous dysplasia (FD), Albright's Hereditary Osteodystrophy (AHO), parathyroid hormone(PTH) resistance, and Progressive Osseous Heteroplasia (POH), among others. To facilitate the study of the GNAS locus and its associated diseases, researchers have developed a range of mouse models. In this review, we will systematically explore the GNAS locus, its related signaling pathways, the bone diseases associated with it, and the mouse models pertinent to these bone diseases.

• Authors: Wan Yang, Yiyi Zuo, Nuo Zhang, Kangning Wang, Runze Zhang, Ziyi Chen, Qing He
• Journal: Frontiers in endocrinology (Front Endocrinol (Lausanne)) Vol. 14 Pg. 1255864 ( 2023) ISSN: 1664-2392 [Print] Switzerland
• PMID: 37920253 (Publication Type: Journal Article, Review, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2023 Yang, Zuo, Zhang, Wang, Zhang, Chen and He.

Chemical References

• GTP-Binding Protein alpha Subunits, Gs
• Chromogranins
• GNAS protein, human

Topics

• Animals
• Mice
• Humans
• GTP-Binding Protein alpha Subunits, Gs (genetics)
• Chromogranins (genetics)
• Pseudohypoparathyroidism (complications, genetics)
• Bone Diseases, Metabolic
• Ossification, Heterotopic (genetics)