Region regulatory

Disease-causing mutations are found in the cytoplasmic regulatory region of the (3 and y subunits of the epithelial sodium channel (ENaC) genes. In general, patients with Liddle s syndrome can be treated successfully with the ENaC inhibitor amiloride. 

Regulatory regions are transcriptional control sequences, which consist of promoters, response elements, enhancers and possibly silencers, located upstream of the start site of transcription. The overall effect on gene transcription is a sum of the contributions of these elements and the activities of proteins recruited to these sites. Promoters are located immediately upstream of the start site and initiate transcription. They often contain tissue- or cell-specific elements if the gene is not ubiquitously expressed. Enhancers are positive regulatory elements which function independently of orientation and distance from the genes they regulate. 

Figure 2. Schematic of HSFl map depicting the DNA binding region at the amino terminus and the regulatory regions for protein-protein interactions in the COOH-ter-...

In order for any gene to synthesize a protein, it must contain certain genetic elements such as promoter and terminator sequences. These regulatory regions signal where the DNA sequence that encodes a product (i.e., a gene) begins and ends. The recombinant... 

Lesch, K. P., Bengel, D., Heils, A. etal. (1996). Association of anxiety related traits with a polymorphism in the serotonin transporter gene regulatory region. Science, 274, 1527-31. 

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