AUTHOR=Yang Wan , Zuo Yiyi , Zhang Nuo , Wang Kangning , Zhang Runze , Chen Ziyi , He Qing
TITLE=GNAS locus: bone related diseases and mouse models
JOURNAL=Frontiers in Endocrinology
VOLUME=14
YEAR=2023
URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1255864
DOI=10.3389/fendo.2023.1255864
ISSN=1664-2392
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.