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Global Identification of Disease Associated Genes in Fragile X Cells

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Technical Report,01 Jul 2015,31 Jul 2016

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Research Foundation of State University Syracuse United States

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The aim of the proposed study is to test the hypothesis that the Fragile X mental retardation protein FMRP preventsresolves R loop formation to maintain genome stability. Specifically we propose that stable R loop formation impedes replication fork progression, resulting in DNA double strand breaks DSBs, and that FMRP functions to prevent such replication-transcription conflict. We have performed three biological replicate experiments to rigorously test if the Fragile X cell line produces more DSBs than the normal control. We also developed a yeast-based recombination assay to directly test the proposed function of FMRP in R loop preventionresolution. Finally, we performed a ChIP-seq experiment to identify the chromatin binding sites of FMRP. We are working towards obtaining a short list of genes with overlapping DSBs, R loop forming sites and FMRP-binding sites. Potential disease-correlation of these genes will then be assessed.

Subject Categories:

  • Genetic Engineering and Molecular Biology
  • Medicine and Medical Research

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