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Gene Review

NF1  -  neurofibromin 1

Gallus gallus

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Disease relevance of NF1

  • Neurofibromatosis type 1 (NF1) is a common inherited disorder that primarily affects tissues derived from the neural crest [1].
  • An oligonucleotide matching the sequence of the adenovirus NF-1 binding site competed for binding to the -1100 footprinted region with a higher affinity than an oligonucleotide for the -1100 region itself [2].

High impact information on NF1

  • These results suggest that NF1 Schwann cells differ from normal Schwann cells, that they are preneoplastic, and that genetic and/or epigenetic changes in Schwann cells may be required for development of peripheral nerve tumors in NF1 [3].
  • First, early-acting transcription factors such as NF1 and Fli-1 bound to a subset of enhancer elements and recruited CREB-binding protein [4].
  • It was found to be distinct from a 54.5-kDa beta-naphthoflavone-induced P-450 catalyzing aryl hydrocarbon hydroxylase and 7-ethoxyresorufin deethylase (designated NF1) [5].
  • Mean turnover numbers for arachidonate epoxygenase, aryl hydrocarbon hydroxylase, and 7-ethoxyresorufin deethylase were 11.2, 0.56, and 0.04, respectively, for reconstituted beta NFAA and 0.33, 11.8, and 2.4 for NF1. beta NFAA and NF1 also differed in chromatography elution characteristics and N-terminal amino acid sequences [5].
  • The sequence to which the oviduct factor binds contains a nuclear factor-1 (NF-1) half-site (GCCAA) [2].

Biological context of NF1

  • To initiate investigations on the role of the NF1 gene product in embryonic development, we have isolated a partial cDNA for chicken neurofibromin [1].
  • This protein of 37,000-39,000 molecular weight binds to three sites within the hypersensitive region: one between the CCAAT and TATA boxes, the second (further upstream) next to a NF1 binding site, and the third adjacent to a regulatory element found in a number of beta-globin genes [6].
  • The observations of this study provide evidence that NF1 may have a role in a variety of cell types in targeting specific DNA sequences to the nuclear matrix [7].
  • A 50 bp sequence (-98 to -146 bp), which contains adjacent cGATA-1 and NF1 protein binding sites in vitro, and which is bound by non-histone protein in vivo, is essential for full promoter activity [8].
  • Neurofibromin modulates the ability of ras proteins to regulate cellular proliferation and/or differentiation, suggesting a possible role in normal development [9].

Anatomical context of NF1

  • Ribonuclease protection assays indicate that NF1 mRNA is expressed in a variety of tissues in the chick embryo; this is confirmed by in situ hybridization analysis [1].
  • Here, we show that the DNA-binding activities of transcription factors Sp1 and GATA-1 is reduced 5- to 10-fold in mature cells, while the activities of UPE-binding protein and NF1 remain the same in mature and immature erythrocytes [10].
  • Expression of total NF1 RNA during rat embryonic development was detected at high levels in E15 heart, tongue, and limb bud [11].
  • Previously we described the identification of an NF1 mRNA isoform containing an additional 54 nucleotides from exon 48a (type 3 NF1) in human skeletal, cardiac and smooth muscle tissues by reverse-transcribed (RT)-PCR [11].
  • NF1 was also present in the internal nuclear matrices of chicken liver and trout liver [7].

Associations of NF1 with chemical compounds

  • These data suggest that the oviduct factor which binds to the -1100 region is an NF-1-like protein that serves as a steroid hormone-independent enhancer of the ovalbumin gene transcription [2].
  • In contrast, during the second phase of differentiation neurofibromin colocalized with microtubules, but not F-actin, and the staining pattern was disrupted with nocodazole, but not cytochalasin [12].
  • Moreover, analysis of immunofluorescence staining of neurofibromin showed that in the presence of a protein crosslinker which preserves both soluble and filamentous cytoskeleton proteins after extraction with Triton X-100, neurofibromin colocalized with F-actin only during the first differentiation phase [12].

Physical interactions of NF1

  • The results indicated that neither the NF1 binding element nor the ovalbumin upstream promoter showed any enhancer-like activity [13].

Other interactions of NF1


Analytical, diagnostic and therapeutic context of NF1

  • The muscle-specific neurofibromin antibodies detected this exon 48a fusion protein by Western immunoblotting [11].
  • Immunoprecipitation using these type 3 neurofibromin antibodies also specifically detected a 250 kDa protein in human and rat muscle tissues [11].


  1. Analysis of the sequence and embryonic expression of chicken neurofibromin mRNA. Schafer, G.L., Ciment, G., Stocker, K.M., Baizer, L. Mol. Chem. Neuropathol. (1993) [Pubmed]
  2. A far upstream ovalbumin enhancer binds nuclear factor-1-like factor. Bradshaw, M.S., Tsai, M.J., O'Malley, B.W. J. Biol. Chem. (1988) [Pubmed]
  3. Angiogenic and invasive properties of neurofibroma Schwann cells. Sheela, S., Riccardi, V.M., Ratner, N. J. Cell Biol. (1990) [Pubmed]
  4. Developmentally regulated recruitment of transcription factors and chromatin modification activities to chicken lysozyme cis-regulatory elements in vivo. Lefevre, P., Melnik, S., Wilson, N., Riggs, A.D., Bonifer, C. Mol. Cell. Biol. (2003) [Pubmed]
  5. Beta-naphthoflavone induction of a cytochrome P-450 arachidonic acid epoxygenase in chick embryo liver distinct from the aryl hydrocarbon hydroxylase and from phenobarbital-induced arachidonate epoxygenase. Nakai, K., Ward, A.M., Gannon, M., Rifkind, A.B. J. Biol. Chem. (1992) [Pubmed]
  6. The purification of an erythroid protein which binds to enhancer and promoter elements of haemoglobin genes. Perkins, N.D., Nicolas, R.H., Plumb, M.A., Goodwin, G.H. Nucleic Acids Res. (1989) [Pubmed]
  7. Nuclear factor 1 is a component of the nuclear matrix. Sun, J.M., Chen, H.Y., Davie, J.R. J. Cell. Biochem. (1994) [Pubmed]
  8. Enhancer dependent expression of the chicken beta-hatching globin gene during erythroid differentiation. Plumb, M.A., Lowe, S., Partington, G., Goodwin, G. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  9. Regulated expression of the neurofibromin type I transcript in the developing chicken brain. Baizer, L., Ciment, G., Hendrickson, S.K., Schafer, G.L. J. Neurochem. (1993) [Pubmed]
  10. Repression of histone H5 gene expression in chicken mature erythrocytes is correlated with reduced DNA-binding activities of transcription factors Sp1 and GATA-1. Sun, J.M., Penner, C.G., Davie, J.R. FEBS Lett. (1993) [Pubmed]
  11. Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Gutmann, D.H., Geist, R.T., Rose, K., Wright, D.E. Dev. Dyn. (1995) [Pubmed]
  12. Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons. Li, C., Cheng, Y., Gutmann, D.A., Mangoura, D. Brain Res. Dev. Brain Res. (2001) [Pubmed]
  13. Modulation of transcriptional activity of the chicken ovalbumin gene promoter in primary cultures of chicken oviduct cells: effects of putative regulatory elements in the 5'-flanking region. Park, H.M., Okumura, J., Muramatsu, T. Biochem. Mol. Biol. Int. (1995) [Pubmed]
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