CTCFL
Description
The CTCFL (CCCTC-binding factor like) is a protein-coding gene located on chromosome 20.
CTCFL, also known as BORIS (Brother of Regulator of Imprinted Sites), is a protein encoded by the CTCFL gene in humans. It is a paralog of CTCF, an 11-zinc finger factor involved in gene regulation. Unlike CTCF, which is primarily expressed in the nucleus of somatic cells, CTCFL is predominantly found in the cytoplasm of spermatocytes. CTCF and CTCFL are expressed in a mutually exclusive pattern, correlating with the resetting of methylation marks during male germ cell differentiation. CTCFL is involved in insulator function, nuclear architecture, and transcriptional control. It plays a critical role in gene imprinting in the male germline and appears to act as a tumor suppressor.
CTCFL is a testis-specific DNA binding protein that regulates gene expression through insulator function, nuclear architecture, and transcriptional control. It likely acts by recruiting epigenetic chromatin modifiers. CTCFL plays a crucial role in gene imprinting in the male germline, contributing to the establishment of methylation differences at the IGF2/H19 imprinted control region (ICR). It directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylation of histone H4 'Arg-3' to form H4R3sme2. This likely promotes the recruitment of de novo DNA methyltransferases to these sites. CTCFL appears to function as a tumor suppressor. In association with DNMT1 and DNMT3B, it activates BAG1 gene expression by binding to its promoter. It is also required for dimethylation of H3 lysine 4 (H3K4me2) at the MYC and BRCA1 promoters.
CTCFL is also known as BORIS, CT27, CTCF-T, HMGB1L1, dJ579F20.2.
Associated Diseases
- cancer
- partial chromosome Y deletion
- spermatogenic failures 50
- spermatogenic failure 25
- spermatogenic failure, X-linked, 2
- 46,XX testicular disorder of sex development
- isolated congenital hypogonadotropic hypogonadism
- spermatogenic failure 63
- spermatogenic failure 74
