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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.
The mechanism in which CTCF binds to these regions is currently unknown, but could include either a direct DNA-CTCF interaction or it could possibly be mediated by other proteins. In mammals (mice, humans, pigs), only the allele for insulin-like growth factor-2 ( IGF2 ) inherited from one's father is active; that inherited from the mother is ...
CTCF molecules can form homodimers on DNA, which can be co-bound by cohesin; this chromatin loop structure helps constrain the ability of enhancers within the loop to target genes outside the loop. Loops with CTCF and cohesin at the start and end of the loop that restrict enhancer-gene targeting are "insulated neighborhoods."
Moreover, CTCF and cohesin play important roles in determining TADs and enhancer-promoter interactions. The result shows that the orientation of CTCF binding motifs in an enhancer-promoter loop should be facing to each other in order for the enhancer to find its correct target. [51]
Cohesin might play an important role in regulation of gene expression through the following mechanisms: Cohesin mediating enhancer-promoter interactions by bridging them in cis. [23] Cohesin connecting CTCF sites in cis by interacting with CTCFs in a highly specific and oriented manner. [24]
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 ...
They are involved in the Wnt signaling pathway, particularly during embryonic [2] and stem-cell development, [3] but also had been found to play a role in cancer [4] and diabetes. [5] TCF/LEF factors recruit the coactivator beta-catenin to enhancer elements of genes they target. They can also recruit members of the Groucho family of ...
Due to their important roles in development, intercellular signaling, and cell cycle, some human diseases have been associated with mutations in transcription factors. [ 63 ] Many transcription factors are either tumor suppressors or oncogenes , and, thus, mutations or aberrant regulation of them is associated with cancer.