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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.
Genetic and epigenetic variation of insulated neighborhood anchors have been linked to several human diseases. One study of a genetic variant linked to asthma disrupts CTCF binding and insulated neighborhood formation. [23] Studies of imprinted loci showed DNA methylation controls CTCF-anchored loops
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 ...
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]
A number of proteins are known to be associated with TAD formation including the protein CTCF and the protein complex cohesin. [1] It is also unknown what components are required at TAD boundaries; however, in mammalian cells, it has been shown that these boundary regions have comparatively high levels of CTCF binding.
The gene therapy will compete with Australia-based CSL Behring’s Hemgenix, a similar treatment that won FDA approval for hemophilia B in 2022. That drug has a similar list price of $3.5 million ...
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system.
a database for CTCF binding sites and genome organization: database: website [7] Factorbook a Wiki-based database for transcription factor-binding data generated by the ENCODE consortium. database: website [8] hmChIP a database and web server for exploring publicly available human and mouse ChIP-seq and ChIP-chip data. database: website [9 ...