CREBBP Re-arrangements affect protein function and lead to aberrant neuronal differentiation

Differentiation

Volumn 79, Issue 4-5, 2010, Pages 218-231

  Sharma, Neeti ^a   Jadhav, Shweta P ^b   Bapat, Sharmila A ^a  

^a NATIONAL CENTRE FOR CELL SCIENCE   (India)

^b UNIVERSITY OF PUNE   (India)

Author keywords

CREBBP; Mental retardation; Neuronal differentiation; NT2; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; HISTONE ACETYLTRANSFERASE; NOTCH RECEPTOR; RETINOID; SONIC HEDGEHOG PROTEIN; WNT PROTEIN;

ARTICLE; CELL CYCLE; CELL PROLIFERATION; CONTROLLED STUDY; ENZYME ACTIVITY; GENE CONSTRUCT; GENE REARRANGEMENT; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MUTANT; NERVE CELL DIFFERENTIATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION;

ANIMALS; BIOLOGICAL MARKERS; CELL CYCLE; CELL DIFFERENTIATION; CELL LINE; CREB-BINDING PROTEIN; GENE REARRANGEMENT; HEDGEHOG PROTEINS; HUMANS; MICE; NEURONS; PROMOTER REGIONS, GENETIC; RECEPTORS, NOTCH; RETINOIDS; SIGNAL TRANSDUCTION; WNT PROTEINS;

MUS;

EID: 77952877321     PISSN: 03014681     EISSN: 14320436     Source Type: Journal    
DOI: 10.1016/j.diff.2010.02.001     Document Type: Article

References (57)

1. Ait-Si-Ali S., Polesskaya A., Filleur S., Ferreira R., Duquet A., Robin P., Vervish A., Trouche D., Cabon F., Harel-Bellan.A. CBP/p300 histone acetyl-transferase activity is important for the G1/S transition. Oncogene 2000, 19:2430-2437.
2. Alarcon J.M., Malleret G., Touzani K., Vronskaya S., Ishii S., Kandel E.R., Barco A. Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron 2004, 42:947-959.
3. Andrews P.W. Retinoic acid induces neuronal differentiation of a cloned human embryonal carcinoma cell line in vitro. Dev. Biol. 1984, 103:285-293.
4. Artavanis-Tsakonas S., Rand M.D., Lake.R.J. Notch signaling: cell fate control and signal integration in development. Science 1999, 284:770-776.
5. Bannister A.J., Kouzarides T. The CBP co-activator is a histone acetyltransferase. Nature 1996, 384:641-643.
6. Bartsch O., Locher K., Meinecke P., Kress W., Seemanova E., Wagner A., Ostermann K., Rodel G. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J. Med. Genet. 2002, 39:496-501.
7. Bartsch O., Schmidt S., Richter M., Morlot S., Seemanova E., Wiebe G., Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum. Genet. 2005, 117:485-493.
8. Bastien J., Rochette-Egly C. Nuclear retinoid receptors and the transcription of retinoid-target genes. Gene 2004, 328:1-16.
9. Bentivegna A., Milani D., Gervasini C., Castronovo P., Mottadelli F., Manzini S., Colapietro P., Giordano L., Atzeri F., Divizia M.T., Uzielli M.L., Neri G., Bedeschi M.F., Faravelli F., Selicorni A., Larizza L. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med. Genet. 2006, 7:77.
10. Bel-Vialar S., Medevielle F., Pituello.F. The on/off of Pax6 controls the tempo of neuronal differentiation in the developing spinal cord 2. Dev. Biol. 2007, 305:659-673.
11. Bertrand N., Castro D.S., Guillemot F. Proneural genes and the specification of neural cell types. Nat. Rev. Neurosci. 2002, 3:517-530.
12. Bielas S., Higginbotham H., Koizumi H., Tanaka T., Gleeson J.G. Cortical neuronal migration mutants suggest separate but intersecting pathways. Annu. Rev. Cell Dev. Biol. 2004, 20:593-618.
13. Blobel G.A., Nakajima T., Eckner R., Montminy M., Orkin S.H. CREB-binding protein cooperates with transcription factor GATA-1 and is required for erythroid differentiation. Proc. Natl. Acad. Sci. USA 1998, 95:2061-2066.
14. Cayuso J., Ulloa F., Cox B., Briscoe J., Marti E. The Sonic hedgehog pathway independently controls the patterning, proliferation and survival of neuroepithelial cells by regulating Gli activity. Development 2006, 133:517-528.
15. Chan H.M., La Thangue N.B. p300/CBP proteins: HATs for transcriptional bridges and scaffolds. J. Cell Sci. 2001, 114:2363-2373.
16. Chiarugi V., Cinelli M., Magnelli L. Acetylation and phosphorylation of the carboxy-terminal domain of p53: regulative significance. Oncol. Res. 1998, 10:55-57.
17. Chrivia J.C., Kwok R.P., Lamb N., Hagiwara M., Montminy M.R., Goodman R.H. Phosphorylated CREB binds specifically to the nuclear protein CBP. Nature 1993, 365:855-859.
18. Coupry I., Roudaut C., Stef M., Delrue M.A., Marche M., Burgelin I., Taine L., Cruaud C., Lacombe D., Arveiler B. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J. Med. Genet. 2002, 39:415-421.
19. Couillard-Despres S., Quehl E., Altendorfer K., Karl C., Ploetz S., Bogdahn U., Winkler J., Aigner L. Human in vitro reporter model of neuronal development and early differentiation processes. BMC Neurosci. 2008, 9:31.
20. D'Arcangelo G., Curran T. Human genetics. Smart transcription factors. Nature 1995, 376:292-293.
21. Eckner R., Yao T.P., Oldread E., Livingston D.M. Interaction and functional collaboration of p300/CBP and bHLH proteins in muscle and B-cell differentiation. Genes Dev. 1996, 10:2478-2490.
22. Gaiano N., Fishell G. The role of notch in promoting glial and neural stem cell fates. Annu. Rev. Neurosci. 2002, 25:471-490.
23. Geisberg J.V., Struhl K. Quantitative sequential chromatin immunoprecipitation, a method for analyzing co-occupancy of proteins at genomic regions in vivo. Nucleic Acids Res. 2004, 39:e151.
24. Ge W., He F., Kim K.J., Blanchi B., Coskun V., Nguyen L., Wu X., Zhao J., Heng J.I., Martinowich K., Tao J., Wu H., Castro D., Sobeih M.M., Corfas G., Gleeson J.G., Greenberg M.E., Guillemot F., Sun Y.E. Coupling of cell migration with neurogenesis by proneural bHLH factors. Proc. Natl. Acad. Sci. USA 2006, 103:1319-1324.
25. Goodman R.H., Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000, 14:1553-1577.
26. Gu W., Roeder R.G. Activation of p53 sequence-specific DNA binding by acetylation of the p53 C-terminal domain. Cell 1997, 90:595-606.
27. Guan J.S., Haggarty S.J., Giacometti E., Dannenberg J.H., Joseph N., Gao J., Nieland T.J., Zhou Y., Wang X., Mazitschek R., Bradner J.E., DePinho R.A., Jaenisch R., Tsai L.H. HDAC2 negatively regulates memory formation and synaptic plasticity. Nature 2009, 459:55-60.
28. Hill J., Clarke J.D., Vargesson N., Jowett T., Holder N. Exogenous retinoic acid causes specific alterations in the development of the midbrain and hindbrain of the zebrafish embryo including positional respecification of the Mauthner neuron. Mech. Dev. 1995, 50:3-16.
29. Hirsch C., Campano L.M., Wohrle S., Hecht A. Canonical Wnt signaling transiently stimulates proliferation and enhances neurogenesis in neonatal neural progenitor cultures. Exp. Cell Res. 2007, 313:572-587.
30. Hong C.S., Caromile L., Nomata Y., Mori H., Bredesen D.E., Koo E.H. Contrasting role of presenilin-1 and presenilin-2 in neuronal differentiation in vitro. J. Neurosci. 1999, 19:637-643.
31. Honjo T. The shortest path from the surface to the nucleus: RBP-J kappa/Su(H) transcription factor. Genes Cells 1996, 1:1-9.
32. Janknecht R., Hunter T. Convergence of MAP kinase pathways on the ternary complex factor Sap-1a. EMBO J. 1997, 16:1620-1627.
33. Kee B.L., Arias J., Montminy M.R. Adaptor-mediated recruitment of RNA polymerase II to a signal-dependent activator. J. Biol. Chem. 1996, 271:2373-2375.
34. Kranenburg O., Scharnhorst V., Van der Eb A.J., Zantema A. Inhibition of cyclin-dependent kinase activity triggers neuronal differentiation of mouse neuroblastoma cells. J. Cell Biol. 1995, 131:227-234.
35. Kwok R.P., Lundblad J.R., Chrivia J.C., Richards J.P., Bachinger H.P., Brennan R.G., Roberts S.G., Green M.R., Goodman R.H. Nuclear protein CBP is a coactivator for the transcription factor CREB. Nature 1994, 370:223-226.
36. Lee V.M., Andrews P.W. Differentiation of NTERA-2 clonal human embryonal carcinoma cells into neurons involves the induction of all three neurofilament proteins. J. Neurosci. 1986, 6:514-521.
37. Murata K., Hattori M., Hirai N., Shinozuka Y., Hirata H., Kageyama R., Sakai T., Minato N. Hes1 directly controls cell proliferation through the transcriptional repression of p27Kip1. Mol. Cell Biol. 2005, 25:4262-4271.
38. Nakajima T., Uchida C., Anderson S.F., Parvin J.D., Montminy M. Analysis of a cAMP-responsive activator reveals a two-component mechanism for transcriptional induction via signal-dependent factors. Genes Dev. 1997, 11:738-747.
39. Ogryzko V.V., Schiltz R.L., Russanova V., Howard B.H., Nakatani Y. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 1996, 87:953-959.
40. Ohnuma S., Harris W.A. Neurogenesis and the cell cycle. Neuron 2003, 40:199-208.
41. Ohtsuka T., Ishibashi M., Gradwohl G., Nakanishi S., Guillemot F., Kageyama R. Hes1 and Hes5 as Notch effectors in mammalian neuronal differentiation. EMBO J. 1999, 18:2196-2207.
42. Oike Y., Hata A., Mamiya T., Kaname T., Noda Y., Suzuki M., Yasue H., Nabeshima T., Araki K., Yamamura.K. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum. Mol. Genet. 1999, 8:387-396.
43. Pleasure S.J., Page C., Lee V.M. Pure, postmitotic, polarized human neurons derived from NTera 2 cells provide a system for expressing exogenous proteins in terminally differentiated neurons. J. Neurosci. 1992, 12:1802-1815.
44. Rubinstein J.H., Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am. J. Dis. Child 1963, 105:588-608.
45. Ryoichiro Kageyama, Ohutsuka Toshiyoki The Notch-Hes pathway in mammalian neural development. Cell Res. 1999, 9:179-188.
46. Ryoichiro Kageyama, Ohutsuka Toshiyoki, Hatekeyama Jun, Ohsawa Rhosuke Role of bHLH genes in neural stem cell differentiation. Exp. Cell Res. 2005, 306:343-348.
47. Selkoe D., Kopan R. Notch and Presenilin: regulated intramembrane proteolysis links development and degeneration. Annu. Rev. Neurosci. 2003, 26:565-597.
48. Smith M.A., Parkinson D.R., Cheson B.D., Friedman M.A. Retinoids in cancer therapy. J. Clin. Oncol. 1992, 10:839-864.
49. Teo J.L., Ma H., Nguyen C., Lam C., Kahn M. Specific inhibition of CBP/beta-catenin interaction rescues defects in neuronal differentiation caused by a presenilin-1 mutation. Proc. Natl. Acad. Sci. USA 2005, 102:12171-12176.
50. Tomita K., Ishibashi M., Nakahara K., et al. Mammalian hairy and enhancer of split homolog 1 regulates differentiation of retinal neurons and is essential for eye morphogenesis. Neuron 1996, 16:723-734.
51. Tsuda M., Takahashi S., Takahashi Y., Asahara H. Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9. J. Biol. Chem. 2003, 278:27224-27229.
52. Udaka T., Samejima H., Kosaki R., Kurosawa K., Okamoto N., Mizuno S., Makita Y., Numabe H., Toral J.F., Takahashi T., Kosaki K. Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Congenit. Anom. (Kyoto) 2005, 45:125-131.
53. Vestergaard J., Lind-Thomsen A., Pedersen M.W., Jarmer H.O., Bak M., Hasholt L., Tommerup N., Tumer Z., Larsen.L.A. GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells. DNA Cell Biol. 2008, 27:251-256.
54. Vo N., Goodman R.H. CREB-binding protein and p300 in transcriptional regulation. J. Biol. Chem. 2001, 276:13505-13508.
55. Weeber E.J., Sweatt J.D. Molecular neurobiology of human cognition. Neuron 2002, 33:845-848.
56. Wolffe A.P., Pruss D. Targeting chromatin disruption: transcription regulators that acetylate histones. Cell 1996, 84:817-819.
57. Wood M.A., Attner M.A., Oliveira A.M., Brindle P.K., Abel T. A transcription factor-binding domain of the coactivator CBP is essential for long-term memory and the expression of specific target genes. Learn. Mem. 2006, 13:609-617.