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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Enhancer Elements (Genetics)

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Disease relevance of Enhancer Elements (Genetics)

  • We have purified a protein (TEF-1) that specifically binds to two sequence unrelated motifs (GT-IIC and Sph) of the simian virus 40 (SV40) enhancer [1].
  • All four members of this kappa B-specific protein family are structurally related to the v-Rel oncoprotein and one, p85, appears identical to human c-Rel. v-Rel, but not nontransforming v-Rel mutants, binds to the kappa B enhancer and inhibits NF-kappa B-activated transcription from the IL-2 receptor alpha promoter and HIV-1 LTR [2].
  • We conclude that a quarter of retrovirus-induced T lymphomas involve activation of c-myc, probably via the LTR enhancer [3].
  • The 5' LTR of this element corresponds to the previously characterized hormone-responsive enhancer associated with Slp regulation, leading to the conclusion that the provirus has conferred androgen response on the adjacent Slp gene [4].
  • We have employed a method based on the Cre-loxP recombination system of bacteriophage P1 to generate a mouse strain in which the JH segments and the intron enhancer in the IgH locus are deleted [5].

Psychiatry related information on Enhancer Elements (Genetics)


High impact information on Enhancer Elements (Genetics)

  • Transgenic mice have been especially useful in elucidating the physiological roles of specific sequence elements in the PEPCK-C gene promoter and in demonstrating the key role played at these sites by the isoforms of CAAT/enhancer binding protein in patterning of PEPCK-C gene expression during the perinatal period [11].
  • The URE was a PU.1 enhancer in B cells but a repressor in T cell precursors [12].
  • Predictions validated in transgenic mouse embryos revealed the presence of multiple tissue-specific enhancers in mouse c-Myc and N-Myc genes, which has implications for organ-specific growth control and tumor-type specificity of oncogenes [13].
  • Differentially methylated regions in Igf2 and H19 contain chromatin boundaries, silencers and activators and regulate the reciprocal expression of the two genes in a methylation-sensitive manner by allowing them exclusive access to a shared set of enhancers [14].
  • In this study, we describe a conserved spatiotemporal ENS enhancer of Ednrb [15].

Chemical compound and disease context of Enhancer Elements (Genetics)


Biological context of Enhancer Elements (Genetics)


Anatomical context of Enhancer Elements (Genetics)


Associations of Enhancer Elements (Genetics) with chemical compounds

  • We have identified an estrogen-responsive enhancer element (DH3 ERE) in the estrogen-induced DNAase I-hypersensitive region III of the chicken ovalbumin gene, which is located approximately 3.3 kb upstream from the mRNA start site and does not contain palindromic ERE [30].
  • Molecular interactions of steroid hormone receptor with its enhancer element: evidence for receptor dimer formation [31].
  • We show that this same nuclear factor is also lacking in pre-B cells and that treatment of these cells with bacterial lipopolysaccharide induces the appearance of NF-kappa B in nuclear extracts and concomitantly activates the kappa enhancer [32].
  • The role of HU, Factor II, and the enhancer in facilitating site-specific recombination is discussed [33].
  • The discovery of nuclear retinoic acid receptors (RARs) acting as retinoic acid-inducible enhancer factors provided a basis for understanding how retinoic acid signals could be transduced at the level of gene expression [34].

Gene context of Enhancer Elements (Genetics)


Analytical, diagnostic and therapeutic context of Enhancer Elements (Genetics)


  1. The HeLa cell protein TEF-1 binds specifically and cooperatively to two SV40 enhancer motifs of unrelated sequence. Davidson, I., Xiao, J.H., Rosales, R., Staub, A., Chambon, P. Cell (1988) [Pubmed]
  2. The v-rel oncogene encodes a kappa B enhancer binding protein that inhibits NF-kappa B function. Ballard, D.W., Walker, W.H., Doerre, S., Sista, P., Molitor, J.A., Dixon, E.P., Peffer, N.J., Hannink, M., Greene, W.C. Cell (1990) [Pubmed]
  3. Murine T lymphomas in which the cellular myc oncogene has been activated by retroviral insertion. Corcoran, L.M., Adams, J.M., Dunn, A.R., Cory, S. Cell (1984) [Pubmed]
  4. An ancient provirus has imposed androgen regulation on the adjacent mouse sex-limited protein gene. Stavenhagen, J.B., Robins, D.M. Cell (1988) [Pubmed]
  5. Independent control of immunoglobulin switch recombination at individual switch regions evidenced through Cre-loxP-mediated gene targeting. Gu, H., Zou, Y.R., Rajewsky, K. Cell (1993) [Pubmed]
  6. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Goehler, H., Lalowski, M., Stelzl, U., Waelter, S., Stroedicke, M., Worm, U., Droege, A., Lindenberg, K.S., Knoblich, M., Haenig, C., Herbst, M., Suopanki, J., Scherzinger, E., Abraham, C., Bauer, B., Hasenbank, R., Fritzsche, A., Ludewig, A.H., Büssow, K., Buessow, K., Coleman, S.H., Gutekunst, C.A., Landwehrmeyer, B.G., Lehrach, H., Wanker, E.E. Mol. Cell (2004) [Pubmed]
  7. Functional characterization of the developmentally controlled immunoglobulin kappa 3' enhancer: regulation by Id, a repressor of helix-loop-helix transcription factors. Pongubala, J.M., Atchison, M.L. Mol. Cell. Biol. (1991) [Pubmed]
  8. The EGF receptor and N signalling pathways act antagonistically in Drosophila mesothorax bristle patterning. Culí, J., Martín-Blanco, E., Modolell, J. Development (2001) [Pubmed]
  9. The Cytosolic Loop of the {gamma}-Secretase Component Presenilin Enhancer 2 Protects Zebrafish Embryos from Apoptosis. Zetterberg, H., Campbell, W.A., Yang, H.W., Xia, W. J. Biol. Chem. (2006) [Pubmed]
  10. Cue reactivity in nicotine and tobacco dependence: a "multiple-action" model of nicotine as a primary reinforcement and as an enhancer of the effects of smoking-associated stimuli. Chiamulera, C. Brain Res. Brain Res. Rev. (2005) [Pubmed]
  11. Regulation of phosphoenolpyruvate carboxykinase (GTP) gene expression. Hanson, R.W., Reshef, L. Annu. Rev. Biochem. (1997) [Pubmed]
  12. Lymphoid cell growth and transformation are suppressed by a key regulatory element of the gene encoding PU.1. Rosenbauer, F., Owens, B.M., Yu, L., Tumang, J.R., Steidl, U., Kutok, J.L., Clayton, L.K., Wagner, K., Scheller, M., Iwasaki, H., Liu, C., Hackanson, B., Akashi, K., Leutz, A., Rothstein, T.L., Plass, C., Tenen, D.G. Nat. Genet. (2006) [Pubmed]
  13. Genome-wide prediction of mammalian enhancers based on analysis of transcription-factor binding affinity. Hallikas, O., Palin, K., Sinjushina, N., Rautiainen, R., Partanen, J., Ukkonen, E., Taipale, J. Cell (2006) [Pubmed]
  14. Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops. Murrell, A., Heeson, S., Reik, W. Nat. Genet. (2004) [Pubmed]
  15. Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors. Zhu, L., Lee, H.O., Jordan, C.S., Cantrell, V.A., Southard-Smith, E.M., Shin, M.K. Nat. Genet. (2004) [Pubmed]
  16. A factor discriminating between the wild-type and a mutant polyomavirus enhancer. Kovesdi, I., Satake, M., Furukawa, K., Reichel, R., Ito, Y., Nevins, J.R. Nature (1987) [Pubmed]
  17. Regulation of gene expression with double-stranded phosphorothioate oligonucleotides. Bielinska, A., Shivdasani, R.A., Zhang, L.Q., Nabel, G.J. Science (1990) [Pubmed]
  18. Cell type-specific intervention of transforming growth factor beta/Smad signaling suppresses collagen gene expression and hepatic fibrosis in mice. Inagaki, Y., Kushida, M., Higashi, K., Itoh, J., Higashiyama, R., Hong, Y.Y., Kawada, N., Namikawa, K., Kiyama, H., Bou-Gharios, G., Watanabe, T., Okazaki, I., Ikeda, K. Gastroenterology (2005) [Pubmed]
  19. Specific interaction of cellular factors with the B enhancer of polyoma virus. Piette, J., Kryszke, M.H., Yaniv, M. EMBO J. (1985) [Pubmed]
  20. Cell-specific activity of the constituent elements of the simian virus 40 enhancer. Nomiyama, H., Fromental, C., Xiao, J.H., Chambon, P. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  21. The yeast UASG is a transcriptional enhancer in human HeLa cells in the presence of the GAL4 trans-activator. Webster, N., Jin, J.R., Green, S., Hollis, M., Chambon, P. Cell (1988) [Pubmed]
  22. MyoD is a sequence-specific DNA binding protein requiring a region of myc homology to bind to the muscle creatine kinase enhancer. Lassar, A.B., Buskin, J.N., Lockshon, D., Davis, R.L., Apone, S., Hauschka, S.D., Weintraub, H. Cell (1989) [Pubmed]
  23. Virus induction of human IFN beta gene expression requires the assembly of an enhanceosome. Thanos, D., Maniatis, T. Cell (1995) [Pubmed]
  24. Functional antagonism between c-Jun and MyoD proteins: a direct physical association. Bengal, E., Ransone, L., Scharfmann, R., Dwarki, V.J., Tapscott, S.J., Weintraub, H., Verma, I.M. Cell (1992) [Pubmed]
  25. The use of psoralen-modified DNA to probe the mechanism of enhancer action. Courey, A.J., Plon, S.E., Wang, J.C. Cell (1986) [Pubmed]
  26. During B-cell differentiation enhancer activity and transcription rate of immunoglobulin heavy chain genes are high before mRNA accumulation. Gerster, T., Picard, D., Schaffner, W. Cell (1986) [Pubmed]
  27. A class switch control region at the 3' end of the immunoglobulin heavy chain locus. Cogné, M., Lansford, R., Bottaro, A., Zhang, J., Gorman, J., Young, F., Cheng, H.L., Alt, F.W. Cell (1994) [Pubmed]
  28. Stimulation of adipogenesis in fibroblasts by PPAR gamma 2, a lipid-activated transcription factor. Tontonoz, P., Hu, E., Spiegelman, B.M. Cell (1994) [Pubmed]
  29. Direct regulation of decapentaplegic by Ultrabithorax and its role in Drosophila midgut morphogenesis. Capovilla, M., Brandt, M., Botas, J. Cell (1994) [Pubmed]
  30. A far upstream estrogen response element of the ovalbumin gene contains several half-palindromic 5'-TGACC-3' motifs acting synergistically. Kato, S., Tora, L., Yamauchi, J., Masushige, S., Bellard, M., Chambon, P. Cell (1992) [Pubmed]
  31. Molecular interactions of steroid hormone receptor with its enhancer element: evidence for receptor dimer formation. Tsai, S.Y., Carlstedt-Duke, J., Weigel, N.L., Dahlman, K., Gustafsson, J.A., Tsai, M.J., O'Malley, B.W. Cell (1988) [Pubmed]
  32. The role of the kappa enhancer and its binding factor NF-kappa B in the developmental regulation of kappa gene transcription. Atchison, M.L., Perry, R.P. Cell (1987) [Pubmed]
  33. Host protein requirements for in vitro site-specific DNA inversion. Johnson, R.C., Bruist, M.F., Simon, M.I. Cell (1986) [Pubmed]
  34. Differential expression of genes encoding alpha, beta and gamma retinoic acid receptors and CRABP in the developing limbs of the mouse. Dollé, P., Ruberte, E., Kastner, P., Petkovich, M., Stoner, C.M., Gudas, L.J., Chambon, P. Nature (1989) [Pubmed]
  35. CTCF maintains differential methylation at the Igf2/H19 locus. Schoenherr, C.J., Levorse, J.M., Tilghman, S.M. Nat. Genet. (2003) [Pubmed]
  36. A splicing enhancer complex controls alternative splicing of doublesex pre-mRNA. Tian, M., Maniatis, T. Cell (1993) [Pubmed]
  37. Sox9 is required for cartilage formation. Bi, W., Deng, J.M., Zhang, Z., Behringer, R.R., de Crombrugghe, B. Nat. Genet. (1999) [Pubmed]
  38. Epigenetic lesions at the H19 locus in Wilms' tumour patients. Moulton, T., Crenshaw, T., Hao, Y., Moosikasuwan, J., Lin, N., Dembitzer, F., Hensle, T., Weiss, L., McMorrow, L., Loew, T. Nat. Genet. (1994) [Pubmed]
  39. The novel SAM domain protein Aveugle is required for Raf activation in the Drosophila EGF receptor signaling pathway. Roignant, J.Y., Hamel, S., Janody, F., Treisman, J.E. Genes Dev. (2006) [Pubmed]
  40. Dual functions of Runx proteins for reactivating CD8 and silencing CD4 at the commitment process into CD8 thymocytes. Sato, T., Ohno, S., Hayashi, T., Sato, C., Kohu, K., Satake, M., Habu, S. Immunity (2005) [Pubmed]
  41. Kappa B-type enhancers are involved in lipopolysaccharide-mediated transcriptional activation of the tumor necrosis factor alpha gene in primary macrophages. Shakhov, A.N., Collart, M.A., Vassalli, P., Nedospasov, S.A., Jongeneel, C.V. J. Exp. Med. (1990) [Pubmed]
  42. Gene transcription in differentiating immature T cell receptor(neg) thymocytes resembles antigen-activated mature T cells. Zúñiga-Pflücker, J.C., Schwartz, H.L., Lenardo, M.J. J. Exp. Med. (1993) [Pubmed]
  43. Tissue-specific transcription of the rat tyrosine hydroxylase gene requires synergy between an AP-1 motif and an overlapping E box-containing dyad. Yoon, S.O., Chikaraishi, D.M. Neuron (1992) [Pubmed]
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