Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
| Autor: | Maricilda Palandi de Mello, Tammy Mazeo Castro, Gil Guerra-Júnior, Fernanda Borchers Coeli, Andréa Trevas Maciel-Guerra, Juliana Godoy Assumpção, Antonia Paula Marques-de-Faria, Maria Tereza Matias Baptista |
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| Rok vydání: | 2010 |
| Předmět: |
Gonadal Dysgenesis
46 XY Male Genetics endocrine system Gonad RNA Stability Endocrinology Diabetes and Metabolism Gonadal dysgenesis General Medicine MRNA stabilization Biology medicine.disease XY gonadal dysgenesis Alternative Splicing Mutagenesis Insertional High-mobility group Testis determining factor medicine.anatomical_structure DMRT1 Gene medicine Humans Child 3' Untranslated Regions Gene Transcription Factors |
| Zdroj: | Arquivos Brasileiros de Endocrinologia & Metabologia. 54:749-753 |
| ISSN: | 0004-2730 |
| DOI: | 10.1590/s0004-27302010000800015 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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