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
Mar 01, 2017
Accession Number
AD1046753

Entities

People

  • Wenyi Feng

Organizations

  • State University of New York

Tags

DTIC Thesaurus Topics

  • Biomedical Research
  • Cell Line
  • Cells
  • Chromosome Aberrations
  • Chromosome Structures
  • Data Analysis
  • Detection
  • Diseases And Disorders
  • Fragile-X Syndrome
  • Gene Expression
  • Genetics
  • Identification
  • Intellectual Disability
  • Medical Personnel
  • New York
  • Retardation
  • Students

Fields of Study

  • Biology

Readers

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  • Molecular Biology and Genetics