Gillen Austin E, Harris Ann
Human Molecular Genetics Program, Children's Memorial Research Center, and Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago IL, USA.
Front Biosci (Elite Ed). 2012 Jan 1;4(2):587-92. doi: 10.2741/401.
Cystic Fibrosis results from mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene was identified in 1989, but more than 20 years later, the regulatory mechanisms controlling its complex expression are still not fully understood. Though the promoter binds transcription factors and drives some aspects of CFTR gene expression, it cannot alone account for tissue specific control. This implicates other distal cis-acting elements in cell-type-specific regulation of CFTR expression. Several of these elements, including intronic enhancers and flanking insulators, were identified within or near the CFTR locus. Here we summarize the known regulatory mechanisms controlling CFTR transcription, including those acting through elements in the promoter and others elsewhere in the locus. A special focus will be elements that contribute to tissue specific regulation of expression.
囊性纤维化是由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起的。该基因于1989年被鉴定出来，但20多年后，控制其复杂表达的调控机制仍未完全了解。虽然启动子结合转录因子并驱动CFTR基因表达的某些方面，但它不能单独解释组织特异性控制。这意味着其他远端顺式作用元件参与了CFTR表达的细胞类型特异性调节。在CFTR基因座内或附近鉴定出了其中一些元件，包括内含子增强子和侧翼绝缘子。在这里，我们总结了控制CFTR转录的已知调控机制，包括通过启动子中的元件以及基因座其他位置的元件起作用的机制。特别关注的将是有助于表达的组织特异性调节的元件。
