Title |
A yeast phenomic model for the gene interaction network modulating CFTR-ΔF508 protein biogenesis
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Published in |
Genome Medicine, December 2012
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DOI | 10.1186/gm404 |
Pubmed ID | |
Authors |
Raymond J Louie, Jingyu Guo, John W Rodgers, Rick White, Najaf A Shah, Silvere Pagant, Peter Kim, Michael Livstone, Kara Dolinski, Brett A McKinney, Jeong Hong, Eric J Sorscher, Jennifer Bryan, Elizabeth A Miller, John L Hartman |
Abstract |
The overall influence of gene interaction in human disease is unknown. In cystic fibrosis (CF) a single allele of the cystic fibrosis transmembrane conductance regulator (CFTR-[increment]F508) accounts for most of the disease. In cell models, CFTR-[increment]F508 exhibits defective protein biogenesis and degradation rather than proper trafficking to the plasma membrane where CFTR normally functions. Numerous genes function in the biogenesis of CFTR and influence the fate of CFTR-[increment]F508. However it is not known whether genetic variation in such genes contributes to disease severity in patients. Nor is there an easy way to study how numerous gene interactions involving CFTR-[increment]F would manifest phenotypically. |
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