Abstract:
:Male to female sex reversal results from failure of testis development. Mutations in the SRY gene or in other genes involved in the sexual differentiation pathway are considered to cause XY gonadal dysgenesis. The majority of the mutations in the SRY described so far are located within the SRY coding region, mainly in the HMG-box conserved domain. Comparison of 5' flanking SRY gene sequences among different species indicated the presence of several putative conserved consensus sequences for different transcription regulators. In this study, we investigated a 360 bp sequence encompassing the SRY putative core promoter, in 17 patients with variable degrees of 46,XY sex reversal, which have been previously shown not to bear mutations in the SRYcoding region. Sequencing analysis of the SRYpromoter in one patient with complete XY gonadal dysgenesis revealed a three base pair deletion in one of the Sp1 binding sites. The deletion abolished Sp1 binding in vitro. This is the first report on a naturally occurring mutation affecting the Sp1 regulatory element in the SRY promoter region, which is associated with sex reversal. Additionally, upon familial investigation the father, who had 18 genital surgeries due to severe hypospadia without cryptorchidism, was found to bear the same deletion and several relatives were referred to have sexual ambiguity.
journal_name
J Endocrinol Investjournal_title
Journal of endocrinological investigationauthors
Assumpção JG,Ferraz LF,Benedetti CE,Maciel-Guerra AT,Guerra G Jr,Marques-de-Faria AP,Baptista MT,de Mello MPdoi
10.1007/BF03347266keywords:
subject
Has Abstractpub_date
2005-07-01 00:00:00pages
651-6issue
7eissn
0391-4097issn
1720-8386pii
2652journal_volume
28pub_type
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journal_title:Journal of endocrinological investigation
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,meta分析
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更新日期:2004-11-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 历史文章,杂志文章
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更新日期:2005-11-01 00:00:00
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journal_title:Journal of endocrinological investigation
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更新日期:1999-03-01 00:00:00
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更新日期:2007-12-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
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pub_type: 杂志文章
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更新日期:2007-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2003-01-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章
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更新日期:2003-05-01 00:00:00
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journal_title:Journal of endocrinological investigation
pub_type: 杂志文章,评审
doi:
更新日期:2008-09-01 00:00:00