Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

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.

Bibliographic Details

Main Authors:	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
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Endocrinologia e Metabologia 2010
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800015
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