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| Tagliarini,E.B.; Assumpção,J.G.; Scolfaro,M.R.; Mello,M.P. de; Maciel-Guerra,A.T.; Guerra Júnior,G.; Hackel,C.. |
| The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role in abnormal testicular organogenesis, we screened for SRY and WT1 gene mutations in 10 children with XY partial gonadal dysgenesis, 2 of whom with a history of Wilms' tumor. The open reading frame and 360 bp of the 5' flanking sequence of the SRY gene, and the ten exons and intron boundaries of the WT1 gene were amplified by PCR of genomic DNA. Single-strand... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: XY partial gonadal dysgenesis; SRY open reading frame; SRY 5' untranslated region; WT1 exons; Denys-Drash syndrome. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000100004 |
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