Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199164
Type: Artigo de periódico
Title: Novel Dmrt1 3'utr+11inst Mutation Associated To Xy Partial Gonadal Dysgenesis.
Author: Mello, Maricilda Palandi de
Coeli, Fernanda Borchers
Assumpção, Juliana Godoy
Castro, Tammy Mazeo
Maciel-Guerra, Andréa Trevas
Marques-de-Faria, Antônia Paula
Baptista, Maria Tereza Matias
Guerra-Júnior, Gil
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.
Subject: 3' Untranslated Regions
Alternative Splicing
Child
Gonadal Dysgenesis, 46,xy
Humans
Male
Mutagenesis, Insertional
Rna Stability
Transcription Factors
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/21340164
Date Issue: 2010
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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