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

Autor(es)

de Mello, Maricilda Palandi ; Coeli, Fernanda Borchers ; Assumpcao, Juliana Godoy ; Castro, Tammy Mazeo ; Maciel-Guerra, Andrea Trevas ; Marques-de-Faria, Antonia Paula ; Matias Baptista, Maria Tereza ; Guerra-Junior, Gil

• Tipo de documento: Artigo Científico
• Fonte: Arquivos Brasileiros de Endocrinologia e Metabologia; v. 54, n. 8, p. 5-pg., 2010-11-01.

Resumo

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. Arq Bras Endocrinol Metab. 2010;54(8):749-53 (AU)

• Processo FAPESP: 07/57818-4 - Análise de microdeleções em 9p e mutações no gene DMRT1 em pacientes com disgenesia gonadal XY
• Beneficiário: Maricilda Palandi de Mello
• Modalidade de apoio: Auxílio à Pesquisa - Regular