Tissue-Specific Regulation of CFTR Gene Expression.
Int J Mol Sci
; 24(13)2023 Jun 26.
Article
em En
| MEDLINE
| ID: mdl-37445855
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Fibrose Cística
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article