Knowledge Resource Center for Ecological Environment in Arid Area
DOI | 10.1159/000357956 |
The Genetics of Disorders of Sex Development in Humans | |
Ohnesorg, Thomas1,2; Vilain, Eric3; Sinclair, Andrew H.1,2 | |
通讯作者 | Sinclair, Andrew H. |
来源期刊 | SEXUAL DEVELOPMENT
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ISSN | 1661-5425 |
EISSN | 1661-5433 |
出版年 | 2014 |
卷号 | 8期号:5页码:262-272 |
英文摘要 | One of the defining events during human embryonic development with the most far-reaching effects for the individual is whether the embryo develops as male or female. The crucial step in this process is the differentiation of the bipotential embryonic gonads into either testes or ovaries. If the embryo inherits X and Y sex chromosomes, the Y-linked SRY (sex determining region in Y) gene initiates a network of genes that results in a functional testis and ultimately a male phenotype. By contrast, in an embryo with 2 X chromosomes, the undifferentiated gonad develops as an ovary resulting in a female phenotype. Perturbation of any of the genes in either the testicular or ovarian developmental pathway can result in individuals with disorders of sex development. In this review, we provide a summary of known components of testicular or ovarian pathways and their antagonistic actions and give a brief overview of new technologies currently used to identify the missing pieces of the sex development network. (C) 2014 S. Karger AG, Basel |
英文关键词 | Disorders of sex development Gonadal development Gonadal dysgenesis Ovary Sex determination Sex reversal Testis |
类型 | Article |
语种 | 英语 |
国家 | Australia ; USA |
收录类别 | SCI-E |
WOS记录号 | WOS:000341819900007 |
WOS关键词 | SRY-RELATED GENE ; MULLERIAN-INHIBITING SUBSTANCE ; OF-FUNCTION MUTATION ; ATR-X SYNDROME ; GONADAL DEVELOPMENT ; CAMPOMELIC DYSPLASIA ; TESTIS DEVELOPMENT ; DESERT-HEDGEHOG ; TRANSCRIPTION FACTORS ; MENTAL-RETARDATION |
WOS类目 | Developmental Biology |
WOS研究方向 | Developmental Biology |
来源机构 | University of California, Los Angeles |
资源类型 | 期刊论文 |
条目标识符 | http://119.78.100.177/qdio/handle/2XILL650/184961 |
作者单位 | 1.Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic 3052, Australia; 2.Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic 3052, Australia; 3.Univ Calif Los Angeles, Dept Med Genet, Los Angeles, CA USA |
推荐引用方式 GB/T 7714 | Ohnesorg, Thomas,Vilain, Eric,Sinclair, Andrew H.. The Genetics of Disorders of Sex Development in Humans[J]. University of California, Los Angeles,2014,8(5):262-272. |
APA | Ohnesorg, Thomas,Vilain, Eric,&Sinclair, Andrew H..(2014).The Genetics of Disorders of Sex Development in Humans.SEXUAL DEVELOPMENT,8(5),262-272. |
MLA | Ohnesorg, Thomas,et al."The Genetics of Disorders of Sex Development in Humans".SEXUAL DEVELOPMENT 8.5(2014):262-272. |
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