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5-HTTLPR (serotonin-transporter-linked promoter region) is a degenerate repeat (redundancy in the genetic code) polymorphic region in SLC6A4, the gene that codes for the serotonin transporter. Since the polymorphism was identified in the middle of the 1990s, [ 1 ] [ 2 ] it has been extensively investigated, e.g., in connection with ...
In eukaryotes, the 5′ flanking region has a complex set of regulatory elements such as enhancers, silencers, and promoters. The primary promoter element in eukaryotes is the TATA box. Other promoter elements found in eukaryotic 5′ flanking regions include initiator elements, downstream core promoter element, CAAT box, and the GC box. [1]
Promoter activity is a term that encompasses several meanings around the process of gene expression from regulatory sequences —promoters [2] and enhancers. [3] Gene expression has been commonly characterized as a measure of how much, how fast, when and where this process happens. [ 4 ]
A locus control region (LCR) is a long-range cis-regulatory element that enhances expression of linked genes at distal chromatin sites. It functions in a copy number-dependent manner and is tissue-specific, as seen in the selective expression of β-globin genes in erythroid cells. [1]
A promoter is induced in response to changes in abundance or conformation of regulatory proteins in a cell, which enable activating transcription factors to recruit RNA polymerase. [3] [4] Given the short sequences of most promoter elements, promoters can rapidly evolve from random sequences.
The Inr element for core promoters was found to be more prevalent than the TATA box in eukaryotic promoter domains. [9] In a study of 1800+ distinct human promoter sequences it was found that 49% contain the Inr element while 21.8% contain the TATA box. [9] Out of those sequences with the TATA box, 62% contained the Inr element as well.
The Pribnow box has a function similar to the TATA box that occurs in promoters in eukaryotes and archaea: it is recognized and bound by a subunit of RNA polymerase during initiation of transcription. [3] This region of the DNA is also the first place where base pairs separate during prokaryotic transcription to allow access to the template strand.
A sigma factor is a protein needed only for initiation of RNA synthesis in bacteria. [12] Sigma factors provide promoter recognition specificity to the RNA polymerase (RNAP) and contribute to DNA strand separation, then dissociating from the RNA polymerase core enzyme following transcription initiation. [13]