Tissue-Specific Regulation of CFTR Gene Expression

More than 2000 variations are described within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene and related to large clinical issues from cystic fibrosis to mono-organ diseases. Although these CFTR-associated diseases have been well documented, a large phenotype spectrum is observed and correlations between phenotypes and genotypes are still not well established. To address this issue, we present several regulatory elements that can modulate CFTR gene expression in a tissue-specific manner. Among them, cis-regulatory elements act through chromatin loopings and take part in three-dimensional structured organization. With tissue-specific transcription factors, they form chromatin modules and can regulate gene expression. Alterations of specific regulations can impact and modulate disease expressions. Understanding all those mechanisms highlights the need to expand research outside the gene to enhance our knowledge.

Automated summary

More than 2000 variations in the CFTR gene are related to various clinical issues. Phenotype and genotype correlations are still not well established, but tissue-specific regulatory elements and chromatin modules can modulate gene expression and disease manifestations. Expanding research beyond the gene is crucial for a comprehensive understanding.