An overview of PAX1: Expression, function and regulation in development and diseases

Weiyin Wu; Xiangjun Kong; Yanhan Jia; Yihui Jia; Weimei Ou; Cuilian Dai; Gang Li; Rui Gao

doi:10.3389/fcell.2022.1051102

An overview of PAX1: Expression, function and regulation in development and diseases

Front Cell Dev Biol. 2022 Oct 28:10:1051102. doi: 10.3389/fcell.2022.1051102. eCollection 2022.

Authors

Weiyin Wu¹, Xiangjun Kong², Yanhan Jia³, Yihui Jia¹, Weimei Ou¹, Cuilian Dai¹, Gang Li¹, Rui Gao¹

Affiliations

¹ Institute of Cardiovascular Diseases, Xiamen Cardiovascular Hospital, School of medicine, Xiamen University, Xiamen, China.
² Department of Pharmacy, Xiang'an Hospital of Xiamen University, School of medicine, Xiamen University, Xiamen, China.
³ Sichuan Cancer Hospital and Institute, Sichuan Cancer Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

Abstract

Transcription factors play multifaceted roles in embryonic development and diseases. PAX1, a paired-box transcription factor, has been elucidated to play key roles in multiple tissues during embryonic development by extensive studies. Recently, an emerging role of PAX1 in cancers was clarified. Herein, we summarize the expression and functions of PAX1 in skeletal system and thymus development, as well as cancer biology and outline its cellular and molecular modes of action and the association of PAX1 mutation or dysregulation with human diseases, thus providing insights for the molecular basis of congenital diseases and cancers.

Keywords: Pax1; cancer; diseases; embryonic development; transcription factor.

Publication types

Review