CGG triplet repeat-binding protein 1 is a protein that in humans is encoded by the CGGBP1gene.[1][2][3]
CGGBP1 influences expression of the fragile X mental retardation gene, FMR1 (MIM 309550), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM][3]
References
↑Deissler H, Wilm M, Genc B, Schmitz B, Ternes T, Naumann F, Mann M, Doerfler W (Jul 1997). "Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene". J Biol Chem. 272 (27): 16761–8. doi:10.1074/jbc.272.27.16761. PMID9201980.
↑Naumann F, Remus R, Schmitz B, Doerfler W (Dec 2003). "Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1)". Genomics. 83 (1): 106–18. doi:10.1016/S0888-7543(03)00212-X. PMID14667814.
Meijer H, de Graaff E, Merckx DM, et al. (1994). "A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome". Hum. Mol. Genet. 3 (4): 615–20. doi:10.1093/hmg/3.4.615. PMID8069307.
Hornstra IK, Nelson DL, Warren ST, Yang TP (1994). "High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome". Hum. Mol. Genet. 2 (10): 1659–65. doi:10.1093/hmg/2.10.1659. PMID8268919.
Deissler H, Behn-Krappa A, Doerfler W (1996). "Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene". J. Biol. Chem. 271 (8): 4327–34. doi:10.1074/jbc.271.8.4327. PMID8626781.
Müller-Hartmann H, Deissler H, Naumann F, et al. (2000). "The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter". J. Biol. Chem. 275 (9): 6447–52. doi:10.1074/jbc.275.9.6447. PMID10692448.
Chen LS, Tassone F, Sahota P, Hagerman PJ (2004). "The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter". Hum. Mol. Genet. 12 (23): 3067–74. doi:10.1093/hmg/ddg331. PMID14519687.
