DNA sequence that binds activators to increase the likelihood of gene transcription
In genetics, an enhancer is a short (50–1500 bp) region of DNA that can be bound by proteins (activators) to increase the likelihood that transcription of a particular gene will occur.[1][2] These proteins are usually referred to as transcription factors. Enhancers are cis-acting. They can be located up to 1 Mbp (1,000,000 bp) away from the gene, upstream or downstream from the start site.[2][3] There are hundreds of thousands of enhancers in the human genome.[2] They are found in both prokaryotes and eukaryotes.[4] Active enhancers typically get transcribed as enhancer or regulatory non-coding RNA, whose expression levels correlate with mRNA levels of target genes.[5]
The first discovery of a eukaryotic enhancer was in the immunoglobulin heavy chain gene in 1983.[6][7][8] This enhancer, located in the large intron, provided an explanation for the transcriptional activation of rearranged Vh gene promoters while unrearranged Vh promoters remained inactive.[9] Lately, enhancers have been shown to be involved in certain medical conditions, for example, myelosuppression.[10] Since 2022, scientists have used artificial intelligence to design synthetic enhancers and applied them in animal systems, first in a cell line,[11] and one year later also in vivo.[12][13]
^Banerji J, Olson L, Schaffner W (July 1983). "A lymphocyte-specific cellular enhancer is located downstream of the joining region in immunoglobulin heavy chain genes". Cell. 33 (3): 729–740. doi:10.1016/0092-8674(83)90015-6. PMID6409418. S2CID23981549.
^Gillies SD, Morrison SL, Oi VT, Tonegawa S (July 1983). "A tissue-specific transcription enhancer element is located in the major intron of a rearranged immunoglobulin heavy chain gene". Cell. 33 (3): 717–728. doi:10.1016/0092-8674(83)90014-4. PMID6409417. S2CID40313833.
^de Almeida BP, Reiter F, Pagani M, Stark A (May 2022). "DeepSTARR predicts enhancer activity from DNA sequence and enables the de novo design of synthetic enhancers". Nature Genetics. 54 (5): 613–624. doi:10.1038/s41588-022-01048-5. PMID35551305.