Global Identification of Disease Associated Genes in Fragile X Cells

Abstract

The aim of the proposed study is to test the hypothesis that the Fragile X mental retardation protein (FMRP) prevents/resolves 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 prevention/resolution. 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.

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Document Details

Document Type
Technical Report
Publication Date
Aug 01, 2016
Accession Number
AD1033996

Entities

People

  • Wenyi Feng

Tags

DTIC Thesaurus Topics

  • Cell Line
  • Cells
  • Chromosome Aberrations
  • Chromosome Structures
  • Chromosomes
  • Data Analysis
  • Detection
  • Diseases And Disorders
  • Gene Expression
  • Genetics
  • Identification
  • Intellectual Disability
  • Medical Personnel
  • Professional Development
  • Retardation
  • Students

Fields of Study

  • Biology

Readers

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  • Molecular Biology and Genetics
  • Molecular Genetics