Functional analysis of Fmr1 gene in the ovary

• Grant number: 06/06269-8
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: April 01, 2007
• End date: March 31, 2011
• Field of knowledge: Biological Sciences - Genetics
• Principal Investigator: Angela Maria Vianna Morgante
• Grantee: Larissa Fontes
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Menopause is defined as the permanent cessation of menses resulting from the loss of ovarian follicular activity. The importance of family history as a predictor of early menopause is an evidence that genetic factors are involved in its determination. About 1% of women reach menopause before 40 years of age, a condition termed premature ovarian failure (POF). The FMR1 premutation is the most frequent cause of POF, present in 24 % of the carrier women. Molecular characteristics of the (CGG)n repeat, such as its size and the interruption pattern by AGG triplets, abnormalities in transcription and translation, RNA toxic gain-of-function and the inactivation pattern of the X chromosome seem to be involved in the etiology of POF associated with FMR1 premutations This project aims at investigating the FMR1 gene functioning in the ovary and identifying the mechanisms by which ovarian cells are affected by the premutation, leading to POF. We will assess in ovarian cells the subcellular distribution of the protein and its ribonucleoprotein complexes, as well as the cellular alterations produced by the (CGG)n expansion in the premutation range.

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

FONTES, Larissa. Analysis of the FMR1 gene expression in the ovary. 2011. Doctoral Thesis - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.