生长板发育的新型调控因子  

Novel regulators of growth plate development

作　　者：张素平 陈虹[1] 陈瑞敏[1] ZHANG Su-ping;CHEN Hong;CHEN Rui-min(Department of Endocrinology,Genetics and Metabolism,Fuzhou Children′s Hospital of Fujian Medical University,Fuzhou,Fujian 350005,China)

机构地区：[1]福建医科大学附属福州儿童医院内分泌遗传代谢科,福建福州350005

出　　处：《中国儿童保健杂志》2022年第9期981-984,1028,共5页Chinese Journal of Child Health Care

基　　金：福州市临床重点专科建设项目(201610191);福州市临床医学中心建设项目(201808310);福州市罕见病基础与临床研究项目(ZD-2019-01);福州市科技计划项目(2021-S-197);福建省科技计划项目(2021GG01010135)。

摘　　要：长骨干骺端生长板是线性生长的结构基础,是一种动态的高度分化的软骨结构。软骨细胞的增殖、分化、肥大及细胞外基质的形成,是生长板发育、线性生长的关键。生长板发育异常将导致矮身材,其机制复杂,多种调节因子通过不同的机制对生长板发育进行调节。除了经典的基因SOX9、ACAN、RUNX2外,近年来,随着全外显子测序的普及,更多的致病基因得以发现。新的调控因子涉及了多种生物过程,包括细胞外骨架、细胞内信号转导、核糖体转录加工、蛋白质类泛素化修饰、表观遗传修饰,丰富了矮身材的基因调控网络。本文就一些新型调控因子在生长板发育中的作用作一综述。The metaphyseal growth plate of long bones is the structural basis for linear growth and is a dynamic,highly differentiated cartilaginous structure.The proliferation,differentiation,hypertrophy and extracellular matrix formation of chondrocytes are the keys to growth plate development and linear growth.Abnormal growth plate development will lead to short stature,and its mechanism is complex.A variety of regulators regulate growth plate development through different mechanisms.In addition to the classic genes SOX9,ACAN,and RUNX2,in recent years,with the development of genetic testing technology,more pathogenic genes have been discovered.The new regulators are involved in a variety of biological processes,including the extracellular skeleton,intracellular signal transduction,ribosome transcriptional processing,protein ubiquitination modification,and epigenetic modification,enriching the gene regulatory network of short stature.This article reviews the roles of some novel regulatory factors in growth plate development.

关 键 词：生长板 矮身材 基因 调控因子 

分 类 号：R33[医药卫生—人体生理学]