Mucins proteins, expressed in a strategic position between the host and the environment, are believed to be central to disease pathogenesis. Mucins are characterized in part by a highly glycosylated variable number of tandem repeat (VNTR) regions that can vary measurably in length, and we hypothesized that this variability could have functional consequences for CF lung disease. We used a combination of Southern blots probed with VNTR sequences, polymerase chain reaction and SNP genotyping to establish the distribution of VNTR lengths for the mucins MUC1, MUC2, MUC5AC, and MUC7 and analyzed potential associations of VNTR length to lung disease severity in our established cohort of patients recruited for extremes-of-lung phenotype ("mild" lung disease versus "severe"). Our goal is to find the role of the mucin genes in CF disease. Our work would likely suggest new prognostic approaches and potential targeted therapies to prevent and treat the CF disease and other mucin genes involved diseases.
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- Guo, X., Zheng, S., Dang, H., Pace, R. G., Stonebraker, J. R., Jones, C. D., ... & Voynow, J. A. (2014). Genome reference and sequence variation in the large repetitive central exon of human MUC5AC. American journal of respiratory cell and molecular biology, 50(1), 223-232.
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