GNAS locus: bone related diseases and mouse models

Wan Yang; Yiyi Zuo; Nuo Zhang; Kangning Wang; Runze Zhang; Ziyi Chen; Qing He

doi:10.3389/fendo.2023.1255864

GNAS locus: bone related diseases and mouse models

Front Endocrinol (Lausanne). 2023 Oct 18:14:1255864. doi: 10.3389/fendo.2023.1255864. eCollection 2023.

Authors

Wan Yang¹, Yiyi Zuo¹, Nuo Zhang², Kangning Wang², Runze Zhang², Ziyi Chen², Qing He¹

Affiliations

¹ State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University, Wuhan, China.
² School and Hospital of Stomatology, Wuhan University, Wuhan, China.

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.

Keywords: GNAS locus; PTH resistance; metabolic bone diseases; mouse models; parathyroid hormone.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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

Grants and funding

This work was supported by National Natural Science Foundation of China 82072483, Natural Science Foundation of Hubei Province of China ZRMS2020000955, the Fundamental Research Funds for the Central Universities 2042022kf1163, the Key Research and Development Program of Hubei Province (2022BCA052), and National Planning Project of Innovation and Entrepreneurship Training of Undergraduate of Wuhan University.