Enhancers

Enhancers are genetic elements that increase the transcription of a gene. They are a type of regulatory sequence that can be located up to 1 million base pairs away from the gene they control. Enhancers can be located upstream, downstream, or within the gene they regulate, and they can function in either orientation.

Function

Enhancers increase the likelihood that transcription will occur at a gene. They do this by providing a binding site for transcription factor proteins. These proteins interact with the RNA polymerase enzyme that carries out transcription, helping it to initiate the process.

Enhancers can also bring about long-range gene regulation by causing the DNA to loop so that they come into close proximity with the genes they control. This allows them to influence the transcription of these genes even though they are not located nearby on the DNA sequence.

Identification

Enhancers can be identified through a variety of experimental techniques. One common method is through the use of reporter gene assays. In these assays, a potential enhancer sequence is linked to a reporter gene that produces a measurable product, such as a fluorescent protein. If the potential enhancer increases the production of the reporter gene, it is likely to be a true enhancer.

Other methods for identifying enhancers include chromatin immunoprecipitation (ChIP), which can identify the binding of transcription factors to DNA, and DNAse hypersensitivity assays, which can identify regions of DNA that are open and accessible for transcription.

Role in Disease

Mutations in enhancers have been linked to a variety of diseases. For example, a mutation in an enhancer of the SHH gene has been linked to polydactyly, a condition characterized by extra fingers or toes. Other diseases linked to enhancer mutations include cancer, diabetes, and heart disease.

See Also

• Promoter (genetics)
• Gene expression
• Transcription factor
• Regulatory sequence

Enhancers Resources
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