SOX Genes and Their Role in Disorders of Sex Development

被引：27
作者：
Sreenivasan, Rajini [1 ,2 ]
Gonen, Nitzan [3 ]
Sinclair, Andrew [1 ,2 ]
机构：
[1] Murdoch Childrens Res Inst, Reprod Dev, Melbourne, Vic, Australia
[2] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
[3] Bar Ilan Univ, Inst Nanotechnol & Adv Mat, Mina & Everard Goodman Fac Life Sci, Ramat Gan, Israel
来源：
SEXUAL DEVELOPMENT | 2022年 / 16卷 / 2-3期
基金：
澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;
关键词：
Disorders of sex development; SOX genes; SRY; SOX9; Sex determination; differentiation; TESTIS-DETERMINING GENE; REGULATORY REGION UPSTREAM; TRANSCRIPTION FACTORS; CAMPOMELIC DYSPLASIA; CELL-DIFFERENTIATION; CONSENSUS STATEMENT; PARTIAL DUPLICATION; BETA-CATENIN; GERM-CELLS; SRY;
D O I：
10.1159/000524453
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
SOX genesare master regulatory genes controlling development and are fundamental to the establishment of sex determination in a multitude of organisms. The discovery of the master sex-determining gene SRY in 1990 was pivotal for the understanding of how testis development is initiated in mammals. With this discovery, an entire family of SOX factors were uncovered that play crucial roles in cell fate decisions during development. The importance of SOX genes in human reproductive development is evident from the various disorders of sex development (DSD) upon loss or overexpression of SOX gene function. Here, we review the roles that SOX genes play in gonad development and their involvement in DSD. We start with an overview of sex determination and differentiation, DSDs, and the SOX gene family and function. We then provide detailed information and discussion on SOX genes that have been implicated in DSDs, both at the gene and regulatory level. These include SRY, SOX9, SOX3, SOX8, and SOX10. This review provides insights on the crucial balance of SOX gene expression levels needed for gonad development and maintenance and how changes in these levels can lead to DSDs.
引用
收藏
页码：80 / 91
页数：12
相关论文
共 121 条
[1]   The transcrintion factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6 [J].
Akiyama, H ;
Chaboissier, MC ;
Martin, JF ;
Schedl, A ;
de Crombrugghe, B .
GENES & DEVELOPMENT, 2002, 16 (21) :2813-2828
[2]   Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa [J].
Akiyama, H ;
Chaboissier, MC ;
Behringer, RR ;
Rowitch, DH ;
Schedl, A ;
Epstein, JA ;
de Crombrugghe, B .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (17) :6502-6507
[3]   Interactions between Sox9 and β-catenin control chondrocyte differentiation [J].
Akiyama, H ;
Lyons, JP ;
Mori-Akiyama, Y ;
Yang, XH ;
Zhang, R ;
Zhang, ZP ;
Deng, JM ;
Taketo, MM ;
Nakamura, T ;
Behringer, RR ;
McCrea, PD ;
de Crombrugghe, B .
GENES & DEVELOPMENT, 2004, 18 (09) :1072-1087
[4]  
Aleck KA, 1999, AM J MED GENET, V85, P2, DOI 10.1002/(SICI)1096-8628(19990702)85:1<2::AID-AJMG2>3.0.CO
[5]  
2-G
[6]   Intrahepatic Bile Ducts Develop According to a New Mode of Tubulogenesis Regulated by the Transcription Factor SOX9 [J].
Antoniou, Aline ;
Raynaud, Peggy ;
Cordi, Sabine ;
Zong, Yiwei ;
Tronche, Francois ;
Stanger, Ben Z. ;
Jacquemin, Patrick ;
Pierreux, Christophe E. ;
Clotman, Frederic ;
Lemaigre, Frederic P. .
GASTROENTEROLOGY, 2009, 136 (07) :2325-2333
[7]   A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal [J].
Assumpçao, JG ;
Ferraz, LFC ;
Benedetti, CE ;
Maciel-Guerra, AT ;
Guerra, G ;
Marques-de-Faria, AP ;
Baptista, TM ;
de Mello, MP .
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2005, 28 (07) :651-656
[8]   Diversity and Complexity in DNA Recognition by Transcription Factors [J].
Badis, Gwenael ;
Berger, Michael F. ;
Philippakis, Anthony A. ;
Talukder, Shaheynoor ;
Gehrke, Andrew R. ;
Jaeger, Savina A. ;
Chan, Esther T. ;
Metzler, Genita ;
Vedenko, Anastasia ;
Chen, Xiaoyu ;
Kuznetsov, Hanna ;
Wang, Chi-Fong ;
Coburn, David ;
Newburger, Daniel E. ;
Morris, Quaid ;
Hughes, Timothy R. ;
Bulyk, Martha L. .
SCIENCE, 2009, 324 (5935) :1720-1723
[9]   Non-coding variation in disorders of sex development [J].
Baetens, D. ;
Mendonca, B. B. ;
Verdin, H. ;
Cools, M. ;
De Baere, E. .
CLINICAL GENETICS, 2017, 91 (02) :163-172
[10]   Homozygous inactivation of Sox9 causes complete XY sex reversal in mice [J].
Barrionuevo, F ;
Bagheri-Fam, S ;
Klattig, J ;
Kist, R ;
Taketo, MM ;
Englert, C ;
Scherer, G .
BIOLOGY OF REPRODUCTION, 2006, 74 (01) :195-201
12345678910