组织特异性增强子调控SOX9基因表达的研究进展

doi:10.3969/j.issn.1005-4979.2020.06.011

《口腔颌面外科杂志》 ›› 2020, Vol. 30 ›› Issue (6): 405-408. doi: 10.3969/j.issn.1005-4979.2020.06.011

组织特异性增强子调控SOX9基因表达的研究进展

陈启铭¹(), 代杰文¹(), 卞迁²()

¹ 上海交通大学医学院附属第九人民医院·口腔医学院，口腔颅颌面科，国家口腔疾病临床研究中心，上海市口腔医学重点实验室，上海市口腔医学研究所
² 上海精准医学研究院，上海 200011

收稿日期:2020-01-31 修回日期:2020-06-07 出版日期:2020-12-28 发布日期:2024-03-20
通讯作者: 代杰文，副主任医师. E-mail: daijiewen@163.com；卞迁，研究员. E-mail: qianbian@shsmu.edu.cn
作者简介:
陈启铭（1995—），男，江苏徐州人，硕士研究生. E-mail: carlchancc@foxmail.com
基金资助:
国家自然科学基金面上项目(82071097); 上海交通大学医学院附属第九人民医院精才培育项目(JC201804)

Advances of Tissue-specific Enhancers in Regulating SOX9 Expression

CHEN Qiming¹(), DAI Jiewen¹(), BIAN Qian²()

¹ Department of Oral and Cranio-maxillofacial Surgery, Shanghai Ninth People′s Hospital, Shanghai JiaoTong University School of Medicine, School of Stomatology, National Oral Disease Clinical Research Center, Shanghai Key Laboratory of Stomatology, Shanghai Institute of Stomatology
² Shanghai Institute of Precision Medicine, Shanghai 200011, China

Received:2020-01-31 Revised:2020-06-07 Online:2020-12-28 Published:2024-03-20

摘要/Abstract

摘要：

SOX9（SRY-related high-mobility-group-box gene 9）作为在软骨、颅颌面及性腺发育中的重要基因，在不同组织中的表达受到精细的调控。既往研究揭示了SOX9非编码区域的染色体结构异常同软骨发育障碍、颅颌面畸形、性别反转等表型相关，且SOX9基因上游不同区段内包含组织特异性调控其表达的增强子元件，如E84、E195、E250、RCSE等与SOX9在软骨组织的表达相关。E3、F2等增强子负责调控SOX9在颅颌面组织中的表达，而Enh13、TES等则为SOX9的性腺特异性增强子。通过染色质构象捕获、染色质开放性分析、种属间保守性分析等方法，可发掘更多调控SOX9在不同组织中表达的增强子。结合功能研究，有望进一步深入阐明组织特异性增强子在调控SOX9基因表达和疾病发生中的作用机制。

关键词: SOX9, 增强子, 软骨发育, 颅颌面发育, 性别决定

Abstract:

As a master transcription factor regulating cartilage, craniofacial and gonad development, the expression level of SOX9 is strictly regulated in different tissues. Previous studies have well revealed that structural variations of non-coding regions around SOX9 are associated with cartilaginous abnormalities, craniofacial malformations and sex reversal, indicating different areas upstream of SOX9 could harbor various tissue-specific enhancers. Cartilage-specific enhancers of SOX9 include E84, E195, E250 and RCSE, whereas the E3 enhancer and F2 enhancer may activate SOX9 expression in craniofacial development, and Enh13 as well as TES are gonad specific enhancers of SOX9. More candidate tissue-specific enhancers of SOX9 could be identified through chromosome conformation capture techniques, chromatin accessibility analysis and species conservation analysis. In addition, functional study of these enhancers could shed light on the mechanism of regulating SOX9 gene expression and disease development.

Key words: SOX9, enhancer, cartilage development, craniofacial development, sex determination

陈启铭, 代杰文, 卞迁. 组织特异性增强子调控SOX9基因表达的研究进展[J]. 《口腔颌面外科杂志》, 2020, 30(6): 405-408.

CHEN Qiming, DAI Jiewen, BIAN Qian. Advances of Tissue-specific Enhancers in Regulating SOX9 Expression[J]. 《Journal of Oral and Maxillofacial Surgery》, 2020, 30(6): 405-408.

https://journal06.magtech.org.cn/Jweb_joms/CN/Y2020/V30/I6/405

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