Nucleosome-remodeling factor subunit BPTF is a protein that in humans is encoded by the BPTFgene.[1][2][3][4]
This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely.[4]
↑Bowser R (March 1997). "Assignment of the human FAC1 gene to chromosome 17q24 by fluorescence in situ hybridization". Genomics. 38 (3): 455–7. doi:10.1006/geno.1996.0657. PMID8975731.
↑Jones MH, Hamana N, Shimane M (April 2000). "Identification and characterization of BPTF, a novel bromodomain transcription factor". Genomics. 63 (1): 35–9. doi:10.1006/geno.1999.6070. PMID10662542.
↑Wysocka J, Swigut T, Xiao H, Milne TA, Kwon SY, Landry J, Kauer M, Tackett AJ, Chait BT, Badenhorst P, Wu C, Allis CD (July 2006). "A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling". Nature. 442 (7098): 86–90. Bibcode:2006Natur.442...86W. doi:10.1038/nature04815. PMID16728976.
Bowser R, Giambrone A, Davies P (1995). "FAC1, a novel gene identified with the monoclonal antibody Alz50, is developmentally regulated in human brain". Dev. Neurosci. 17 (1): 20–37. doi:10.1159/000111270. PMID7621746.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID8889548.
Zhu P, Bowser R (1997). "Identification and analysis of the complete cDNA sequence for the human FAC1 gene". Biochim. Biophys. Acta. 1309 (1–2): 5–8. doi:10.1016/s0167-4781(96)00127-3. PMID8950167.
Mu X, Springer JE, Bowser R (1997). "FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord". Exp. Neurol. 146 (1): 17–24. doi:10.1006/exnr.1997.6508. PMID9225734.
Jordan-Sciutto KL, Dragich JM, Bowser R (1999). "DNA binding activity of the fetal Alz-50 clone 1 (FAC1) protein is enhanced by phosphorylation". Biochem. Biophys. Res. Commun. 260 (3): 785–9. doi:10.1006/bbrc.1999.0986. PMID10403843.
Jordan-Sciutto K, Rhodes J, Bowser R (2002). "Altered subcellular distribution of transcriptional regulators in response to Abeta peptide and during Alzheimer's disease". Mech. Ageing Dev. 123 (1): 11–20. doi:10.1016/S0047-6374(01)00334-7. PMID11640947.
Rhodes J, Lutka FA, Jordan-Sciutto KL, Bowser R (2003). "Altered expression and distribution of FAC1 during NGF-induced neurite outgrowth of PC12 cells". NeuroReport. 14 (3): 449–52. doi:10.1097/01.wnr.0000059782.23521.35. PMID12634501.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.