Molecular mechanisms of external genitalia development

被引:103
作者
Blaschko, Sarah D. [1 ]
Cunha, Gerald R. [1 ]
Baskin, Laurence S. [1 ]
机构
[1] Univ Calif San Francisco, Dept Urol, San Francisco, CA 94143 USA
基金
美国国家科学基金会;
关键词
External genitalia; Development; Hypospadias; IN-UTERO EXPOSURE; ACTIVATING TRANSCRIPTION FACTOR-3; ENDOCRINE DISRUPTING CHEMICALS; PARENTAL OCCUPATIONAL-EXPOSURE; ANOGENITAL DISTANCE; SONIC-HEDGEHOG; GENE-EXPRESSION; SEXUAL-DIFFERENTIATION; MATERNAL EXPOSURE; MUTATION ANALYSIS;
D O I
10.1016/j.diff.2012.06.003
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
External genitalia development occurs through a combination of hormone independent, hormone dependent, and endocrine pathways. Perturbation of these pathways can lead to abnormal external genitalia development. We review human and animal mechanisms of normal and abnormal external genitalia development, and we evaluate abnormal mechanisms that lead to hypospadias. We also discuss recent laboratory findings that further our understanding of animal models of hypospadias. Copyright (c) 2012 International Society of Differentiation. Published by Elsevier B.V. All rights reserved.
引用
收藏
页码:261 / 268
页数:8
相关论文
共 81 条
[1]   Male-specific expression of Sox9 during gonad development of crocodile and mouse is mediated by alternative splicing of its proline-glutamine-alanine rich domain [J].
Agrawal, Raman ;
Wessely, Oliver ;
Anand, Amit ;
Singh, Lalji ;
Aggarwal, Ramesh K. .
FEBS JOURNAL, 2009, 276 (15) :4184-4196
[2]   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
[3]   Hypospadias and urethral development [J].
Baskin, LS .
JOURNAL OF UROLOGY, 2000, 163 (03) :951-956
[4]   Activating transcription factor 3:: a hormone responsive gene in the etiology of hypospadias [J].
Beleza-Meireles, Ana ;
Tohonen, Virpi ;
Soderhall, Cilla ;
Schwentner, Christian ;
Radmayr, Christian ;
Kockum, Ingrid ;
Nordenskjold, Agneta .
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2008, 158 (05) :729-739
[5]   Risk factors for hypospadias in the estrogen receptor 2 gene [J].
Beleza-Meireles, Ana ;
Kockum, Ingrid ;
Lundberg, Fredrik ;
Soderhall, Cilla ;
Nordenskjold, Agneta .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (09) :3712-3718
[6]   FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias [J].
Beleza-Meireles, Ana ;
Lundberg, Fredrik ;
Lagerstedt, Kristina ;
Zhou, Xiaolei ;
Omrani, Davood ;
Frisen, Louise ;
Nordenskjold, Agneta .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (04) :405-410
[7]   CHARGE syndrome [J].
Blake, Kim D. ;
Prasad, Chitra .
ORPHANET JOURNAL OF RARE DISEASES, 2006, 1 (1)
[8]  
Buckley J, 2006, ENV HLTH, V21, P4
[10]   Fkbp52 Regulates Androgen Receptor Transactivation Activity and Male Urethra Morphogenesis [J].
Chen, Hanying ;
Yong, Weidong ;
Hinds, Terry D., Jr. ;
Yang, Zuocheng ;
Zhou, Yuhong ;
Sanchez, Edwin R. ;
Shou, Weinian .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (36) :27776-27784