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Target gene identification by microarray analysis of ovaries from Fragile X-associated primary ovarian insufficiency (FXPOI) mice

Thursday, October 11, 2012 — Poster Session III

10:00 a.m. – Noon

Natcher Conference Center, Building 45




  • X.N. Zhao
  • K. Usdin


Fragile X-associated primary ovarian insufficiency (FXPOI) is an ovarian dysfunction disorder involving infertility, irregular menses and an early menopause. It affects about 20-28% of female Fragile X premutation carriers. The FX premutation allele contains 55-200 CGG-repeats in the 5' untranslated region of the Fragile X mental retardation 1 gene (FMR1). An RNA gain-of-function mechanism has been suggested for disease pathology based on the observation of increased levels of CGG-containing FMR1 mRNA, along with either no detectable change in FMRP or slightly reduced FMRP levels in premutation carriers. However, how transcription of the CGG-repeats leads to disease pathology remains unknown. We sought to identify target genes and affected pathways in the ovaries from premutation mice by microarray analysis. To minimize the cyclical hormonal variation seen in adult females, our initial analysis used the ovaries of mice before they reached sexual maturity. ANOVA analysis of the data revealed 166 genes that are differentially expressed in the ovaries of premutation mice. Further functional analyses are now underway in order to investigate their role in ovarian dysfunction.

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