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Transcriptional repressor CTCF also known as 11-zinc finger protein or CCCTC-binding factor is a transcription factor that in humans is encoded by the CTCF gene. [ 5 ] [ 6 ] CTCF is involved in many cellular processes, including transcriptional regulation , insulator activity, V(D)J recombination [ 7 ] and regulation of chromatin architecture.
PPD2 (polydactyly of a triphalangeal thumb) is caused by a mutation of ZRS enhancer, which in turn strengthened the production of SHH gene. [56] [57] Adenocarcinoma of the lung can be caused by a duplication of enhancer element for MYC gene. [58] T-cell acute lymphoblastic leukemia is caused by an introduction of a new enhancer. [59]
HS5 is thought to be a genetic insulator in vivo as it has both enhancer-blocking activity and transgene barrier activities. [5] CTCF was first characterized for its role in regulating β-globin gene expression. At this locus, CTCF functions as an insulator-binding protein forming a chromosomal boundary. [13]
Topologically associating domains within chromosome territories, their borders and interactions. A topologically associating domain (TAD) is a self-interacting genomic region, meaning that DNA sequences within a TAD physically interact with each other more frequently than with sequences outside the TAD. [1]
CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. Transcriptional repressor CTCFL (this protein) is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and CTCFL are normally expressed in a ...
The BCL11A gene encodes for a regulatory C2H2 type zinc-finger protein, that can bind to the DNA. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported. [7] The protein associates with the SWI/SNF complex, that regulates gene expression via chromatin remodeling. [8]
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In genetics, an enhancer is a short (50–1500 bp) region of DNA that can be bound by proteins to increase the likelihood that transcription of a particular gene will occur.
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