Temporal Analysis of the Expression of Genes Involved in Gonadal Differentiation in Dhx37 and Amh Mutant Zebrafish.

• Grant number: 25/10833-7
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: July 01, 2025
• End date: June 30, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Berenice Bilharinho de Mendonça
• Grantee: Marcela Carlini Pedroso
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
• Associated research grant: 19/26780-9 - Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society, AP.TEM

Abstract

Differences in Sex Development (DSD) are genetic conditions that impact gonadal differentiation and spermatogenesis. Mutations in the DHX37 and AMH genes have been associated with DSD, suggesting that these variants may compromise mechanisms of sex determination and gonadal homeostasis. This Scientific Initiation project, linked to the postdoctoral project "Functional Rescue of Pathogenic Variants in the DHX37 and AMH Genes Using the Zebrafish Model", aims to analyze the temporal expression of key genes in gonadal differentiation, including genes in the AMH signaling pathway, spermatogenesis, germ cell regulation, epigenetic control and RNA regulation, as well as genes in the hypothalamic-pituitary-gonad pathway. Expression analysis will be performed by RT-qPCR at different stages of gonadal development in zebrafish injected with mutant and wild-type mRNA. The results will contribute to the understanding of the influence of DHX37 and AMH on gonadal differentiation and testicular development, helping to elucidate molecular mechanisms associated with DSD and providing relevant information for the genetic diagnosis and clinical counseling of these conditions. (AU)