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Type: Artigo de periódico
Title: A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal
Author: Assumpcao, JG
Ferraz, LFC
Benedetti, CE
Maciel-Guerra, AT
Guerra, G
Marques-de-Faria, AP
Baptista, TM
de Mello, MP
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 SRY coding region. Sequencing analysis of the SRY promoter 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.
Subject: SRY
SRY mutations
46,XY gonadal dysgenesis
46,XY sex reversal
sex determination
Country: Itália
Editor: Editrice Kurtis S R L
Rights: fechado
Date Issue: 2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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