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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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| Cabral,D.F.; Maciel-Guerra,A.T.; Hackel,C.. |
| We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Androgen receptor gene; Gene mutations; Androgen insensitivity syndromes; Male pseudohermaphroditism. |
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008 |
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| Cunha,J.L.; Soardi,F.C.; Bernardi,R.D.; Oliveira,L.E.C.; Benedetti,C.E.; Guerra-Junior,G.; Maciel-Guerra,A.T.; de Mello,M.P.. |
| Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gonadal dysgenesis; HMG-box; Missense mutation; Sex reversal SRY; Streak gonads; Testis determination. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400014 |
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