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Phenotypic characterization of zebrafish (Danio rerio) carrying a mutation in the prop1 gene generated by genomic editing using CRISPR/Cas9

Grant number: 18/04616-0
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): October 01, 2018
Effective date (End): June 30, 2019
Field of knowledge:Biological Sciences - Genetics - Animal Genetics
Principal Investigator:Luciani Renata Silveira de Carvalho
Grantee:Débora Delmonte Bissegatto
Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil


Congenital hypopituitarism is a multiple hormonal deficiency due to mutations in transcription factors involved in pituitary embryogenesis. In humans, mutations in PROP1 gene are the most common cause of congenital hypopituitarism, that manifests by deficits of growth hormone (GH), thyroid-stimulating hormone (TSH), prolactin (PRL), gonadotropins (FSH and LH), and a variable and progressive deficit of adrenocorticotropic hormone (ACTH). PROP1 gene is responsible for ventral migration of progenitor cells from the proliferative zone of the Rathke's pouch into the anterior lobe, and also for its differentiation. Summarizing, this gene is directly or indirectly responsible for production and secretion of pituitary hormones and, furthermore, is highly conserved among vertebrates. In a previous study developed as a master's dissertation at the Endocrinology Department, the product was the generation of a zebrafish animal model with an induced mutation in prop1 gene; however, this animal has not yet been described from the phenotypical point of view. The objective of this project is to characterize the phenotype of this new lineage of Zebrafish.

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