Transcriptional regulation of CFTR gene expression.
Transcriptional regulation of CFTR gene expression.
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DOI：
10.2741/401
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
A. Gillen;A. Harris
中科院分区：
文献类型：
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作者：
A. Gillen;A. Harris
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年被发现，但20多年过去了，控制其复杂表达的调控机制仍然没有完全了解。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。这暗示了CFTR表达的细胞类型特异性调节中的其他远端顺式作用元件。这些元素中的几个，包括内含子增强子和侧翼绝缘子，被确定在CFTR基因座内或附近。在这里，我们总结了已知的调控机制控制CFTR转录，包括那些通过元件的启动子和其他地方的基因座。一个特别的重点将是有助于组织特异性表达调控的元素。
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.