title: Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.
abstract: The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.
authors.affiliation: Center for Molecular Biology and Genetic Engineering, Universidade Estadual de Campinas, SP, Brazil. mmello@unicamp.br
authors.forename: Maricilda Palandi de
authors.initials: MP
authors.lastname: Mello
authors.forename: Fernanda Borchers
authors.initials: FB
authors.lastname: Coeli
authors.forename: Juliana Godoy
authors.initials: JG
authors.lastname: Assumpção
authors.forename: Tammy Mazeo
authors.initials: TM
authors.lastname: Castro
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Antônia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.forename: Maria Tereza Matias
authors.initials: MT
authors.lastname: Baptista
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D017398:Alternative Splicing; D002648:Child; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics*; D020871:RNA Stability; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C110547:DMRT1 protein; D014157:Transcription Factors