Mutations In Sry And Wt1 Genes Required For Gonadal Development Are Not Responsible For Xy Partial Gonadal Dysgenesis.

dc.creatorTagliarini, E B
dc.creatorAssumpção, J G
dc.creatorScolfaro, M R
dc.creatorMello, M P de
dc.creatorMaciel-Guerra, A T
dc.creatorGuerra Júnior, G
dc.creatorHackel, C
dc.date2005-Jan
dc.date2015-11-27T13:02:21Z
dc.date2015-11-27T13:02:21Z
dc.date.accessioned2018-03-29T01:01:18Z
dc.date.available2018-03-29T01:01:18Z
dc.identifierBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 38, n. 1, p. 17-25, 2005-Jan.
dc.identifier0100-879X
dc.identifier/S0100-879X2005000100004
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/15665984
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/196381
dc.identifier15665984
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1296614
dc.descriptionThe 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 conformation polymorphism was initially used for WT1 mutation screening. Since shifts in fragment migration were only observed for intron/exon 4, the ten WT1 exons from all patients were sequenced manually. No mutations were detected in the SRY 5' untranslated region or within SRY open-reading frame sequences. WT1 sequencing revealed one missense mutation (D396N) in the ninth exon of a patient who also had Wilms' tumor. In addition, two silent point mutations were found in the first exon including one described here for the first time. Some non-coding sequence variations were detected, representing one new (IVS4+85A>G) and two already described (-7ATG T>G, IVS9-49 T>C) single nucleotide polymorphisms. Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.
dc.description38
dc.description17-25
dc.languageeng
dc.relationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]
dc.relationBraz. J. Med. Biol. Res.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subject5' Untranslated Regions
dc.subjectBase Sequence
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectDna-binding Proteins
dc.subjectExons
dc.subjectGenes, Wilms Tumor
dc.subjectGonadal Dysgenesis, 46,xy
dc.subjectHumans
dc.subjectInfant
dc.subjectMale
dc.subjectMolecular Sequence Data
dc.subjectMutation
dc.subjectNuclear Proteins
dc.subjectOpen Reading Frames
dc.subjectPhenotype
dc.subjectPolymerase Chain Reaction
dc.subjectSex-determining Region Y Protein
dc.subjectTestis
dc.subjectTranscription Factors
dc.titleMutations In Sry And Wt1 Genes Required For Gonadal Development Are Not Responsible For Xy Partial Gonadal Dysgenesis.
dc.typeArtículos de revistas


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