Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis
| Autor: | Olga Moreno, Catalina Forero, Andrea Carolina Ramírez, Adriana Rojas, Fernando Suárez-Obando, Mary García-Acero, Mónica Molina, Jaime Pérez, Camila Céspedes, Juan Carlos Prieto |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
endocrine system Sex Determination Analysis Sex Differentiation Adolescent DNA Copy Number Variations Gene Dosage Gonadal dysgenesis Gonadoblastoma Germline mosaicism Biology Gonadal Dysgenesis Gene dosage XY gonadal dysgenesis 03 medical and health sciences 0302 clinical medicine Gene Duplication Gene duplication Testis Genetics medicine Humans Sexual Maturation Child Molecular Biology Gonadal Dysgenesis 46 XY Sexual differentiation DAX-1 Orphan Nuclear Receptor Siblings Teratoma General Medicine Sex reversal Sex Determination Processes medicine.disease Pedigree DNA-Binding Proteins 030104 developmental biology 030220 oncology & carcinogenesis Female |
| Zdroj: | Molecular biology reports. 46(3) |
| ISSN: | 1573-4978 |
| Popis: | Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9–SF1. |
| Databáze: | OpenAIRE |
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