Journal
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
Volume 54, Issue 8, Pages 749-753Publisher
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
DOI: 10.1590/S0004-27302010000800015
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Funding
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2007/57818-4]
- Fundo de Apoio ao Ensino e a Pesquisa da Universidade Estadual de Campinas (FAEP-Unicamp)
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)
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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
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