The regulation of FAM13A, a chronic obstructive pulmonary disease risk gene

  • Reem Sayed

Western Sydney University thesis: Master's thesis

Abstract

Chronic Obstructive Pulmonary Disease (COPD) is an incurable disease characterized by ongoing processes of inflammation and repair of the pulmonary epithelium. The dysregulation of the underlying processes that govern these mechanisms, such as epithelial-to-mesenchymal transition (EMT), leads to disease progression. In-silico analysis of the regulation of expression of FAM13A, a COPD-susceptibility gene identified in multiple genetic association studies, identifies a putative COPD-associated enhancer. In vitro analysis of this putative enhancer reveals a possible inhibitory function in lung adenocarcinoma cells in response to time-dependent IFN-? treatment. Additionally, IFN-? is shown to regulate FAM13A in normal lung epithelial cells with a loss of this regulation in lung adenocarcinoma cells at both the transcriptional and translational level. This study allows a better understanding of the regulation of FAM13A in the context of COPD and provides insight into the link between COPD and lung cancer.
Date of Award2018
Original languageEnglish

Keywords

  • lungs
  • diseases
  • obstructive
  • cancer genes
  • medical genetics

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