Добавил:
kiopkiopkiop18@yandex.ru t.me/Prokururor I Вовсе не секретарь, но почту проверяю Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз: Предмет: Файл:
Скачиваний:
0
Добавлен:
28.03.2026
Размер:
9.32 Mб
Скачать

pRb and the Pathogenesis of Retinoblastoma

169

26.Dryja TP, Cavenee W, White R, Rapaport JM, Petersen R, Albert DM, Bruns GA. Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med 1984; 310:550– 553.

27.Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986; 323:643–646.

28.Lee W-H, Bookstein R, Hong F, Young L-J, Shew J-Y, Lee EY-HP. Human retinoblastoma susceptibility gene: Cloning, identification, and sequence. Science 1987; 235:1394–1399.

29.Fung Y-KT, Murphree AL, T’Ang A, Qian J, Hinrichs SH, Benedict WF. Structural evidence for the authenticity of the human retinoblastoma gene. Science 1987; 236:1657–1661.

30.Dunn JM, Phillips RA, Becker AJ, Gallie BL. Identification of germline and somatic mutations affecting the retinoblastoma gene. Science 1988; 241:1797–1800.

31.Dunn JM, Phillips RA, Zhu X, Becker A, Gallie BL. Mutations in the RB1 gene and their effects on transcription. Mol Cell Biol 1989; 9:4596–4604.

32.Wiggs J, Nordenskjold M, Yandell D, Rapaport J, Grondin V, Janson M, Werelius B, Petersen R, Craft A, Riedel K, et al. Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N Engl J Med 1988; 318:151–157.

33.Huang HJ, Yee JK, Shew JY, Chen PL, Bookstein R, Friedmann T, Lee EY, Lee WH. Suppression of the neoplastic phenotype by replacement of the RB gene in human cancer cells. Science 1988; 242:1563–1566.

34.Bookstein R, Shew JY, Chen PL, Scully P, Lee WH. Suppression of tumorigenicity of human prostate carcinoma cells by replacing a mutated RB gene. Science 1990; 247:712–715.

35.Sumegi J, Uzvolgyi E, Klein G. Expression of the RB gene under the control of MuLVLTR suppresses tumorigenicity of WERI-Rb-27 retinoblastoma cells in immunodefective mice. Cell Growth Differ 1990; 1:247–250.

36.Takahashi R, Hashimoto T, Xu HJ, Hu SX, Matsui T, Miki T, Bigo-Marshall H, Aaronson SA, Benedict WF. The retinoblastoma gene functions as a growth and tumor suppressor in human bladder carcinoma cells. Proc Natl Acad Sci USA 1991; 88:5257– 5261.

37.Chen PL, Chen Y, Shan B, Bookstein R, Lee WH. Stability of retinoblastoma gene expression determines the tumorigenicity of reconstituted retinoblastoma cells. Cell Growth Differ 1992; 3:119–125.

38.Muncaster MM, Cohen BL, Phillips RA, Gallie BL. Failure of RB1 to reverse the malignant phenotype of human tumor cell lines. Cancer Res 1992; 52:654–661.

39.Weinberg RA. The retinoblastoma protein and cell cycle control. Cell 1995; 81:323– 330.

40.Sherr CJ. Cancer cell cycles. Science 1996; 274:1672–1677.

41.Sellers WR, Kaelin WG, Jr. Role of the retinoblastoma protein in the pathogenesis of human cancer. J Clin Oncol 1997; 15:3301–3312.

42.Lipinski MM, Jacks T. The retinoblastoma gene family in differentiation and development. Oncogene 1999; 18:7873–7882.

43.Sellers WR, Novitch BG, Miyake S, Heith A, Otterson GA, Kaye FJ, Lassar AB, Kaelin WG, Jr. Stable binding to E2F is not required for the retinoblastoma protein to activate transcription, promote differentiation, and suppress tumor cell growth. Genes Dev 1998; 12:95–106.

44.Thomas DM, Carty SA, Piscopo DM, Lee JS, Wang WF, Forrester WC, Hinds PW. The retinoblastoma protein acts as a transcriptional coactivator required for osteogenic differentiation. Mol Cell 2001; 8:303–316.

170

Van Quill and O’Brien

45.Lee EY, Chang CY, Hu N, Wang YC, Lai CC, Herrup K, Lee WH, Bradley A. Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis. Nature 1992; 359:288–294.

46.Jacks T, Fazeli A, Schmitt EM, Bronson RT, Goodell MA, Weinberg RA. Effects of an Rb mutation in the mouse. Nature 1992; 359:295–300.

47.Clarke AR, Maandag ER, van Roon M, van der Lugt NM, van der Valk M, Hooper ML, Berns A, te Riele H. Requirement for a functional Rb-1 gene in murine development. Nature 1992; 359:328–330.

48.Morgenbesser SD, Williams BO, Jacks T, DePinho RA. p53-dependent apoptosis produced by Rb-deficiency in the developing mouse lens. Nature 1994; 371:72–74.

49.Zacksenhaus E, Jiang Z, Chung D, Marth JD, Phillips RA, Gallie BL. pRb controls proliferation, differentiation, and death of skeletal muscle cells and other lineages during embryogenesis. Genes Dev 1996; 10:3051–3064.

50.Chen PL, Riley DJ, Chen Y, Lee WH. Retinoblastoma protein positively regulates terminal adipocyte differentiation through direct interaction with C/EBPs. Genes Dev 1996; 10:2794–2804.

51.Chen PL, Riley DJ, Chen-Kiang S, Lee WH. Retinoblastoma protein directly interacts with and activates the transcription factor NF-IL6. Proc Natl Acad Sci USA 1996; 93:465–469.

52.Nead MA, Baglia LA, Antinore MJ, Ludlow JW, McCance DJ. Rb binds c-Jun and activates transcription. EMBO J 1998; 17:2342–2352.

53.Robanus-Maandag EC, van der Valk M, Vlaar M, Feltkamp C, O’Brien J, van Roon M, van der Lugt N, Berns A, te Riele H. Developmental rescue of an embryonic-lethal mutation in the retinoblastoma gene in chimeric mice. EMBO J 1994; 13:4260–4268.

54.Williams BO, Schmitt EM, Remington L, Bronson RT, Albert DM, Weinberg RA, Jacks T. Extensive contribution of Rb-deficient cells to adult chimeric mice with limited histopathological consequences. EMBO J 1994; 13:4251–4259.

55.Lipinski MM, Macleod KF, Williams BO, Mullaney TL, Crowley D, Jacks T. Cellautonomous and non-cell-autonomous functions of the Rb tumor suppressor in developing central nervous system. EMBO J 2001; 20:3402–3413.

56.Hamel PA, Phillips RA, Muncaster M, Gallie BL. Speculations on the roles of RB1 in tissue-specific differentiation, tumor initiation, and tumor progression. FASEB J 1993; 7:846–854.

57.Lee WH, Shew JY, Hong FD, Sery TW, Donoso LA, Young LJ, Bookstein R, Lee EY. The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity. Nature 1987; 329:642–645.

58.Hong FD, Huang HJ, To H, Young LJ, Oro A, Bookstein R, Lee EY, Lee WH. Structure of the human retinoblastoma gene. Proc Natl Acad Sci USA 1989; 86:5502– 5506.

59.Toguchida J, McGee TL, Paterson JC, Eagle JR, Tucker S, Yandell DW, Dryja TP. Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 1993; 17:535–543.

60.Mulligan G, Jacks T. The retinoblastoma gene family: Cousins with overlapping interests. Trends Genet 1998; 14:223–229.

61.Classon M, Dyson N. p107 and p130: versatile proteins with interesting pockets. Exp Cell Res 2001; 264:135–147.

62.Robanus-Maandag E, Dekker M, van der Valk M, Carrozza ML, Jeanny JC, Dannenberg JH, Berns A, te Riele H. p107 is a suppressor of retinoblastoma development in pRb-deficient mice. Genes Dev 1998; 12:1599–1609.

63.Takimoto H, Tsukuda K, Ichimura K, Hanafusa H, Nakamura A, Oda M, Harada M, Shimizu K. Genetic alterations in the retinoblastoma protein-related p107 gene in human hematologic malignancies. Biochem Biophys Res Commun 1998; 251:264–268.

pRb and the Pathogenesis of Retinoblastoma

171

64.Helin K, Holm K, Niebuhr A, Eiberg H, Tommerup N, Hougaard S, Poulsen HS, Spang-Thomsen M, Norgaard P. Loss of the retinoblastoma protein-related p130 protein in small cell lung carcinoma. Proc Natl Acad Sci USA 1997; 94:6933–6938.

65.Claudio PP, Howard CM, Fu Y, Cinti C, Califano L, Micheli P, Mercer EW, Caputi M, Giordano A. Mutations in the retinoblastoma-related gene RB2/p130 in primary nasopharyngeal carcinoma. Cancer Res 2000; 60:8–12.

66.Claudio PP, Howard CM, Pacilio C, Cinti C, Romano G, Minimo C, Maraldi NM, Minna JD, Gelbert L, Leoncini L, Tosi GM, Hicheli P, Caputi M, Giordano GG, Giordano A. Mutations in the retinoblastoma-related gene RB2/p130 in lung tumors and suppression of tumor growth in vivo by retrovirus-mediated gene transfer. Cancer Res 2000; 60:372–382.

67.Cinti C, Claudio PP, Howard CM, Neri LM, Fu Y, Leoncini L, Tosi GM, Maraldi NM, Giordano A. Genetic alterations disrupting the nuclear localization of the retinoblastoma-related gene RB2/p130 in human tumor cell lines and primary tumors. Cancer Res 2000; 60:383–389.

68.Cinti C, Leoncini L, Nyongo A, Ferrari F, Lazzi S, Bellan C, Vatti R, Zamparelli A, Cevenini G, Tosi GM, Claudio PP, Maraldi NM, Tosi P, Giordano A. Genetic alterations of the retinoblastoma-related gene RB2/p130 identify different pathogenetic mechanisms in and among Burkitt’s lymphoma subtypes. Am J Pathol 2000; 156:751– 760.

69.Paggi MG, Giordano A. Who is the boss in the retinoblastoma family? The point of view of Rb2/p130, the little brother. Cancer Res 2001; 61:4651–4654.

70.Morris EJ, Dyson NJ. Retinoblastoma protein partners. Adv Cancer Res 2001; 82:1– 54.

71.Wu L, Timmers C, Maiti B, Saavedra HI, Sang L, Chong GT, Nuckolls F, Giangrande P, Wright FA, Field SJ, Greenberg ME, Orkin S, Nevins JR, Robinson ML, Leone G. The E2F1-3 transcription factors are essential for cellular proliferation. Nature 2001; 414:457–462.

72.Harbour JW, Luo RX, Dei Santi A, Postigo AA, Dean DC. Cdk phosphorylation triggers sequential intramolecular interactions that progressively block Rb functions as cells move through G1. Cell 1999; 98:859–869.

73.Knudsen ES, Wang JY. Differential regulation of retinoblastoma protein function by specific Cdk phosphorylation sites. J Biol Chem 1996; 271:8313–8320.

74.Lee JO, Russo AA, Pavletich NP. Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7. Nature 1998; 391:859–865.

75.Brown VD, Gallie BL. The B-domain lysine patch of pRB is required for binding to large T antigen and release of E2F by phosphorylation. Mol Cell Biol 2002; 22:1390– 1401.

76.Lin BT, Gruenwald S, Morla AO, Lee WH, Wang JY. Retinoblastoma cancer suppressor gene product is a substrate of the cell cycle regulator cdc2 kinase. EMBO J 1991; 10:857–864.

77.Lees JA, Buchkovich KJ, Marshak DR, Anderson CW, Harlow E. The retinoblastoma protein is phosphorylated on multiple sites by human cdc2. EMBO J 1991; 10:4279– 4290.

78.Wang JY, Knudsen ES, Welch PJ. The retinoblastoma tumor suppressor protein. Adv Cancer Res 1994; 64:25–85.

79.Adams PD. Regulation of the retinoblastoma tumor suppressor protein by cyclin/cdks. Biochim Biophys Acta 2001; 1471:M123–133.

80.Sherr CJ, Roberts JM. CDK inhibitors: Positive and negative regulators of G1-phase progression. Genes Dev 1999; 13:1501–1512.

81.Wang JY, Naderi S, Chen TT. Role of retinoblastoma tumor suppressor protein in DNA damage response. Acta Oncol 2001; 40:689–695.

172

Van Quill and O’Brien

82.Lundberg AS, Hahn WC, Gupta P, Weinberg RA. Genes involved in senescence and immortalization. Curr Opin Cell Biol 2000; 12:705–709.

83.Zhang P. The cell cycle and development: Redundant roles of cell cycle regulators. Curr Opin Cell Biol 1999; 11:655–662.

84.Zhu L, Skoultchi AI. Coordinating cell proliferation and differentiation. Curr Opin Genet Dev 2001; 11:91–97.

85.Ravitz MJ, Wenner CE. Cyclin-dependent kinase regulation during G1 phase and cell cycle regulation by TGF-beta. Adv Cancer Res 1997; 71:165–207.

86.LaBaer J, Garrett MD, Stevenson LF, Slingerland JM, Sandhu C, Chou HS, Fattaey A, Harlow E. New functional activities for the p21 family of CDK inhibitors. Genes Dev 1997; 11:847–862.

87.Cheng M, Olivier P, Diehl JA, Fero M, Roussel MF, Roberts JM, Sherr CJ. The p21(Cip1) and p27(Kip1) CDK ‘inhibitors’ are essential activators of cyclin D- dependent kinases in murine fibroblasts. EMBO J 1999; 18:1571–1583.

88.Chen P-L, Scully P, Shew J-Y, Wang JYJ, Lee W-H. Phosphorylation of the retinoblastoma gene product is modulated during the cell cycle and cellular differentiation. Cell 1989; 58:1193–1198.

89.Knudson AG, Jr. Retinoblastoma: A prototypic hereditary neoplasm. Semin Oncol 1978; 5:57–60.

90.Whyte P, Buchkovich KJ, Horowitz JM, Friend SH, Raybuck M, Weinberg RA, Harlow E. Association between an oncogene and an anti-oncogene: The adenovirus E1A proteins bind to the retinoblastoma gene product. Nature 1988; 334:124–129.

91.Whyte P, Williamson NM, Harlow E. Cellular targets for transformation by the adenovirus E1A proteins. Cell 1989; 56:67–75.

92.DeCaprio JA, Ludlow JW, Figge J, Shew JY, Huang CM, Lee WH, Marsilio E, Paucha E, Livingston DM. SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene. Cell 1988; 54:275–283.

93.Ewen ME, Ludlow JW, Marsilio E, DeCaprio JA, Millikan RC, Cheng SH, Paucha E, Livingston DM. An N-terminal transformation-governing sequence of SV40 large T antigen contributes to the binding of both p110Rb and a second cellular protein, p120. Cell 1989; 58:257–267.

94.Dyson N, Howley PM, Munger K, Harlow E. The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product. Science 1989; 243:934–937.

95.Munger K, Werness BA, Dyson N, Phelps WC, Harlow E, Howley PM. Complex formation of human papillomavirus E7 proteins with the retinoblastoma tumor suppressor gene product. EMBO J 1989; 8:4099–4105.

96.Bagchi S, Weinmann R, Raychaudhuri P. The retinoblastoma protein copurifies with E2F-I, an E1A-regulated inhibitor of the transcription factor E2F. Cell 1991; 65:1063– 1072.

97.Bandara LR, La Thangue NB. Adenovirus E1a prevents the retinoblastoma gene product from complexing with a cellular transcription factor. Nature 1991; 351:494– 497.

98.Chellappan SP, Hiebert S, Mudryj M, Horowitz JM, Nevins JR. The E2F transcription factor is a cellular target for the RB protein. Cell 1991; 65:1053–1061.

99.Chittenden T, Livingston DM, Kaelin WG, Jr. The T/E1A-binding domain of the retinoblastoma product can interact selectively with a sequence-specific DNA-binding protein. Cell 1991; 65:1073–1082.

100.Kovesdi I, Reichel R, Nevins JR. Identification of a cellular transcription factor involved in E1A transactivation. Cell 1986; 45:219–228.

101.La Thangue NB, Rigby PW. An adenovirus E1A-like transcription factor is regulated during the differentiation of murine embryonal carcinoma stem cells. Cell 1987; 49:507– 513.

pRb and the Pathogenesis of Retinoblastoma

173

102.Mudryj M, Hiebert SW, Nevins JR. A role for the adenovirus inducible E2F transcription factor in a proliferation dependent signal transduction pathway. EMBO J 1990; 9:2179–2184.

103.Shirodkar S, Ewen M, DeCaprio JA, Morgan J, Livingston DM, Chittenden T. The transcription factor E2F interacts with the retinoblastoma product and a p107-cyclin A complex in a cell cycle-regulated manner. Cell 1992; 68:157–166.

104.Schwarz JK, Devoto SH, Smith EJ, Chellappan SP, Jakoi L, Nevins JR. Interactions of the p107 and Rb proteins with E2F during the cell proliferation response. Embo J 1993; 12:1013–1020.

105.Hiebert SW, Chellappan SP, Horowitz JM, Nevins JR. The interaction of RB with E2F coincides with an inhibition of the transcriptional activity of E2F. Genes Dev 1992; 6:177–185.

106.Flemington EK, Speck SH, Kaelin WG, Jr. E2F-1-mediated transactivation is inhibited by complex formation with the retinoblastoma susceptibility gene product. Proc Natl Acad Sci USA 1993; 90:6914–6918.

107.Helin K, Harlow E, Fattaey A. Inhibition of E2F-1 transactivation by direct binding of the retinoblastoma protein. Mol Cell Biol 1993; 13:6501–6508.

108.Nevins JR. E2F: a link between the Rb tumor suppressor protein and viral oncoproteins. Science 1992; 258:424–429.

109.Dyson N. The regulation of E2F by pRB-family proteins. Genes Dev 1998; 12:2245– 2262.

110.Mu¨ller H, Helin K. The E2F transcription factors: Key regulators of cell proliferation. Biochim Biophys Acta 2000; 1470:M1-M12.

111.Trimarchi JM, Lees JA. Sibling rivalry in the E2F family. Nat Rev Mol Cell Biol 2002; 3:11–20.

112.Lavia P, Jansen-Durr P. E2F target genes and cell-cycle checkpoint control. Bioessays 1999; 21:221–230.

113.Mu¨ller H, Bracken AP, Vernell R, Moroni MC, Christians F, Grassilli E, Prosperini E, Vigo E, Oliner JD, Helin K. E2Fs regulate the expression of genes involved in differentiation, development, proliferation, and apoptosis. Genes Dev 2001; 15:267–285.

114.Weintraub SJ, Prater CA, Dean DC. Retinoblastoma protein switches the E2F site from positive to negative element. Nature 1992; 358:259–261.

115.Weintraub SJ, Chow KN, Luo RX, Zhang SH, He S, Dean DC. Mechanism of active transcriptional repression by the retinoblastoma protein. Nature 1995; 375:812–815.

116.Zhang HS, Postigo AA, Dean DC. Active transcriptional repression by the Rb-E2F complex mediates G1 arrest triggered by p16INK4a, TGFbeta, and contact inhibition. Cell 1999; 97:53–61.

117.Zhang HS, Dean DC. Rb-mediated chromatin structure regulation and transcriptional repression. Oncogene 2001; 20:3134–3138.

118.Ayer DE. Histone deacetylases: transcriptional repression with SINers and NuRDs. Trends Cell Biol 1999; 9:193–198.

119.Kouzarides T. Histone acetylases and deacetylases in cell proliferation. Curr Opin Genet Dev 1999; 9:40–48.

120.Jones DO, Cowell IG, Singh PB. Mammalian chromodomain proteins: Their role in genome organisation and expression. Bioessays 2000; 22:124–137.

121.Kingston RE, Narlikar GJ. ATP-dependent remodeling and acetylation as regulators of chromatin fluidity. Genes Dev 1999; 13:2339–2352.

122.Tyler JK, Kadonaga JT. The ‘‘dark side’’ of chromatin remodeling: Repressive effects on transcription. Cell 1999; 99:443–446.

123.Brehm A, Miska EA, McCance DJ, Reid JL, Bannister AJ, Kouzarides T. Retinoblastoma protein recruits histone deacetylase to repress transcription. Nature 1998; 391:597–601.

174

Van Quill and O’Brien

124.Magnaghi-Jaulin L, Groisman R, Naguibneva I, Robin P, Lorain S, Le Villain JP, Troalen F, Trouche D, Harel-Bellan A. Retinoblastoma protein represses transcription by recruiting a histone deacetylase. Nature 1998; 391:601–605.

125.Luo RX, Postigo AA, Dean DC. Rb interacts with histone deacetylase to repress transcription. Cell 1998; 92:463–473.

126.Lai A, Lee JM, Yang WM, DeCaprio JA, Kaelin WG, Jr., Seto E, Branton PE. RBP1 recruits both histone deacetylase-dependent and -independent repression activities to retinoblastoma family proteins. Mol Cell Biol 1999; 19:6632–6641.

127.Zhang HS, Gavin M, Dahiya A, Postigo AA, Ma D, Luo RX, Harbour JW, Dean DC. Exit from G1 and S phase of the cell cycle is regulated by repressor complexes containing HDAC-Rb-hSWI/SNF and Rb-hSWI/SNF. Cell 2000; 101:79–89.

128.Lai A, Kennedy BK, Barbie DA, Bertos NR, Yang XJ, Theberge MC, Tsai SC, Seto E, Zhang Y, Kuzmichev A, Lane WS, Reinberg D, Harlow E, Branton PE. RBP1 recruits the mSIN3-histone deacetylase complex to the pocket of retinoblastoma tumor suppressor family proteins found in limited discrete regions of the nucleus at growth arrest. Mol Cell Biol 2001; 21:2918–2932.

129.Lai A, Marcellus RC, Corbeil HB, Branton PE. RBP1 induces growth arrest by repression of E2F-dependent transcription. Oncogene 1999; 18:2091–2100.

130.Nielsen SJ, Schneider R, Bauer UM, Bannister AJ, Morrison A, O’Carroll D, Firestein R, Cleary M, Jenuwein T, Herrera RE, Kouzarides T. Rb targets histone H3 methylation and HP1 to promoters. Nature 2001; 412:561–565.

131.Vandel L, Nicolas E, Vaute O, Ferreira R, Ait-Si-Ali S, Trouche D. Transcriptional repression by the retinoblastoma protein through the recruitment of a histone methyltransferase. Mol Cell Biol 2001; 21:6484–6494.

132.Rea S, Eisenhaber F, O’Carroll D, Strahl BD, Sun ZW, Schmid M, Opravil S, Mechtler K, Ponting CP, Allis CD, Jenuwein T. Regulation of chromatin structure by sitespecific histone H3 methyltransferases. Nature 2000; 406:593–599.

133.Bannister AJ, Zegerman P, Partridge JF, Miska EA, Thomas JO, Allshire RC, Kouzarides T. Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain. Nature 2001; 410:120–124.

134.Lachner M, O’Carroll D, Rea S, Mechtler K, Jenuwein T. Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins. Nature 2001; 410:116–120.

135.Dunaief JL, Strober BE, Guha S, Khavari PA, Alin K, Luban J, Begemann M, Crabtree GR, Goff SP. The retinoblastoma protein and BRG1 form a complex and cooperate to induce cell cycle arrest. Cell 1994; 79:119–130.

136.Singh P, Coe J, Hong W. A role for retinoblastoma protein in potentiating transcriptional activation by the glucocorticoid receptor. Nature 1995; 374:562– 565.

137.Strober BE, Dunaief JL, Guha, Goff SP. Functional interactions between the hBRM/ hBRG1 transcriptional activators and the pRB family of proteins. Mol Cell Biol 1996; 16:1576–1583.

138.Trouche D, Le Chalony C, Muchardt C, Yaniv M, Kouzarides T. RB and hbrm cooperate to repress the activation functions of E2F1. Proc Natl Acad Sci USA 1997; 94:11268–11273.

139.Strobeck MW, Knudsen KE, Fribourg AF, DeCristofaro MF, Weissman BE, Imbalzano AN, Knudsen ES. BRG-1 is required for RB-mediated cell cycle arrest. Proc Natl Acad Sci USA 2000; 97:7748–7753.

140.Wong AK, Shanahan F, Chen Y, Lian L, Ha P, Hendricks K, Ghaffari S, Iliev D, Penn B, Woodland AM, Smith R, Salada G, Carillo A, Laity K, Gupte J, Swedlund B, Tavtigian SV, Teng DH, Lees E. BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. Cancer Res 2000; 60:6171–6177.

141.Harlow E. Retinoblastoma. For our eyes only. Nature 1992; 359:270–271.

pRb and the Pathogenesis of Retinoblastoma

175

142.Lee EY, Hu N, Yuan SS, Cox LA, Bradley A, Lee WH, Herrup K. Dual roles of the retinoblastoma protein in cell cycle regulation and neuron differentiation. Genes Dev 1994; 8:2008–2021.

143.Lin SC, Skapek SX, Papermaster DS, Hankin M, Lee EY. The proliferative and apoptotic activities of E2F1 in the mouse retina. Oncogene 2001; 20:7073–7084.

144.Jiang Z, Zacksenhaus E, Gallie BL, Phillips RA. The retinoblastoma gene family is differentially expressed during embryogenesis. Oncogene 1997; 14:1789–1797.

145.Charles A, Tang X, Crouch E, Brody JS, Xiao ZX. Retinoblastoma protein complexes with C/EBP proteins and activates C/EBP-mediated transcription. J Cell Biochem 2001; 83:414–425.

146.Yee AS, Shih HH, Tevosian SG. New perspectives on retinoblastoma family functions in differentiation. Front Biosci 1998; 3:D532–547.

147.Tevosian SG, Shih HH, Mendelson KG, Sheppard KA, Paulson KE, Yee AS. HBP1: A HMG box transcriptional repressor that is targeted by the retinoblastoma family. Genes Dev 1997; 11:383–396.

148.Sampson EM, Haque ZK, Ku MC, Tevosian SG, Albanese C, Pestell RG, Paulson KE, Yee AS. Negative regulation of the Wnt-beta-catenin pathway by the transcriptional repressor HBP1. EMBO J 2001; 20:4500–4511.

149.Shih HH, Xiu M, Berasi SP, Sampson EM, Leiter A, Paulson KE, Yee AS. HMG box transcriptional repressor HBP1 maintains a proliferation barrier in differentiated liver tissue. Mol Cell Biol 2001; 21:5723–5732.

150.Oppenheim RW. Cell death during development of the nervous system. Annu Rev Neurosci 1991; 14:453–501.

151.Raff MC, Barres BA, Burne JF, Coles HS, Ishizaki Y, Jacobson MD. Programmed cell death and the control of cell survival: Lessons from the nervous system. Science 1993; 262:695–700.

152.Burek MJ, Oppenheim RW. Programmed cell death in the developing nervous system. Brain Pathol 1996; 6:427–446.

153.Liu DX, Greene LA. Neuronal apoptosis at the G1/S cell cycle checkpoint. Cell Tissue Res 2001; 305:217–228.

154.Walsh K. Coordinate regulation of cell cycle and apoptosis during myogenesis. Prog Cell Cycle Res 1997; 3:53–58.

155.Schneider JW, Gu W, Zhu L, Mahdavi V, Nadal-Ginard B. Reversal of terminal differentiation mediated by p107 in Rb / muscle cells. Science 1994; 264:1467–1471.

156.Slack RS, El-Bizri H, Wong J, Belliveau DJ, Miller FD. A critical temporal requirement for the retinoblastoma protein family during neuronal determination. J Cell Biol 1998; 140:1497–1509.

157.Wang J, Guo K, Wills KN, Walsh K. Rb functions to inhibit apoptosis during myocyte differentiation. Cancer Res 1997; 57:351–354.

158.Ko LJ, Prives C. p53: Puzzle and paradigm. Genes Dev 1996; 10:1054–1072.

159.Levine AJ. p53, the cellular gatekeeper for growth and division. Cell 1997; 88:323–331.

160.Agarwal ML, Taylor WR, Chernov MV, Chernova OB, Stark GR. The p53 network. J Biol Chem 1998; 273:1–4.

161.Prives C, Hall PA. The p53 pathway. J Pathol 1999; 187:112–126.

162.Macleod KF, Hu Y, Jacks T. Loss of Rb activates both p53-dependent and independent cell death pathways in the developing mouse nervous system. Embo J 1996; 15:6178– 6188.

163.Wu X, Levine AJ. p53 and E2F-1 cooperate to mediate apoptosis. Proc Natl Acad Sci USA 1994; 91:3602–3606.

164.Qin XQ, Livingston DM, Kaelin WG, Jr., Adams PD. Deregulated transcription factor E2F-1 expression leads to S-phase entry and p53-mediated apoptosis. Proc Natl Acad Sci USA 1994; 91:10918–10922.

176

Van Quill and O’Brien

165.Shan B, Lee WH. Deregulated expression of E2F-1 induces S-phase entry and leads to apoptosis. Mol Cell Biol 1994; 14:8166–8173.

166.Kowalik TF, DeGregori J, Schwarz JK, Nevins JR. E2F1 overexpression in quiescent fibroblasts leads to induction of cellular DNA synthesis and apoptosis. J Virol 1995; 69:2491–2500.

167.Hiebert SW, Packham G, Strom DK, Haffner R, Oren M, Zambetti G, Cleveland JL. E2F-1:DP-1 induces p53 and overrides survival factors to trigger apoptosis. Mol Cell Biol 1995; 15:6864–6874.

168.Hsieh JK, Fredersdorf S, Kouzarides T, Martin K, Lu X. E2F1-induced apoptosis requires DNA binding but not transactivation and is inhibited by the retinoblastoma protein through direct interaction. Genes Dev 1997; 11:1840–1852.

169.Phillips AC, Bates S, Ryan KM, Helin K, Vousden KH. Induction of DNA synthesis and apoptosis are separable functions of E2F-1. Genes Dev 1997; 11:1853–1863.

170.DeGregori J, Leone G, Miron A, Jakoi L, Nevins JR. Distinct roles for E2F proteins in cell growth control and apoptosis. Proc Natl Acad Sci USA 1997; 94:7245–7250.

171.Kowalik TF, DeGregori J, Leone G, Jakoi L, Nevins JR. E2F1-specific induction of apoptosis and p53 accumulation, which is blocked by Mdm2. Cell Growth Differ 1998; 9:113–118.

172.Tsai KY, Hu Y, Macleod KF, Crowley D, Yamasaki L, Jacks T. Mutation of E2f-1 suppresses apoptosis and inappropriate S-phase entry and extends survival of Rbdeficient mouse embryos. Mol Cell 1998; 2:293–304.

173.Phillips AC, Vousden KH. E2F-1 induced apoptosis. Apoptosis 2001; 6:173–182.

174.Vigo E, Muller H, Prosperini E, Hateboer G, Cartwright P, Moroni MC, Helin K. CDC25A phosphatase is a target of E2F and is required for efficient E2Finduced S phase. Mol Cell Biol 1999; 19:6379–6395.

175.Ziebold U, Reza T, Caron A, Lees JA. E2F3 contributes both to the inappropriate proliferation and to the apoptosis arising in Rb mutant embryos. Genes Dev 2001; 15:386–391.

176.Macleod K. pRb and E2f-1 in mouse development and tumorigenesis. Curr Opin Genet Dev 1999; 9:31–39.

177.Sherr CJ, Weber JD. The ARF/p53 pathway. Curr Opin Genet Dev 2000; 10:94–99.

178.Tsai KY, MacPherson D, Rubinson DA, Crowley D, Jacks T. ARF is not required for apoptosis in Rb mutant mouse embryos. Curr Biol 2002; 12:159–163.

179.Lasorella A, Noseda M, Beyna M, Yokota Y, Iavarone A. Id2 is a retinoblastoma protein target and mediates signalling by Myc oncoproteins. Nature 2000; 407:592–598.

180.Norton JD. ID helix-loop-helix proteins in cell growth, differentiation and tumorigenesis. J Cell Sci 2000; 113:3897–3905.

181.Zebedee Z, Hara E. Id proteins in cell cycle control and cellular senescence. Oncogene 2001; 20:8317–8325.

182.Yokota Y. Id and development. Oncogene 2001; 20:8290–8298.

183.Lasorella A, Uo T, Iavarone A. Id proteins at the cross-road of development and cancer. Oncogene 2001; 20:8326–8333.

184.Yokota Y, Mori S. Role of Id family proteins in growth control. J Cell Physiol 2002; 190:21–28.

185.Iavarone A, Garg P, Lasorella A, Hsu J, Israel MA. The helix-loop-helix protein Id-2 enhances cell proliferation and binds to the retinoblastoma protein. Genes Dev 1994; 8:1270–1284.

186.Novitch BG, Mulligan GJ, Jacks T, Lassar AB. Skeletal muscle cells lacking the retinoblastoma protein display defects in muscle gene expression and accumulate in S and G2 phases of the cell cycle. J Cell Biol 1996; 135:441–456.

187.Arnold HH, Winter B. Muscle differentiation: More complexity to the network of myogenic regulators. Curr Opin Genet Dev 1998; 8:539–544.

pRb and the Pathogenesis of Retinoblastoma

177

188.Gu W, Schneider JW, Condorelli G, Kaushal S, Mahdavi V, Nadal-Ginard B. Interaction of myogenic factors and the retinoblastoma protein mediates muscle cell commitment and differentiation. Cell 1993; 72:309–324.

189.Mal A, Sturniolo M, Schiltz RL, Ghosh MK, Harter ML. A role for histone deacetylase HDAC1 in modulating the transcriptional activity of MyoD: Inhibition of the myogenic program. EMBO J 2001; 20:1739–1753.

190.Puri PL, Iezzi S, Stiegler P, Chen TT, Schilta RL, Muscat GE, Giordano A, Kedes L, Wang JY, Sartorelli Y. Class I histone deacetylases sequentially interact with MyoD and pRb during skeletal myogenesis. Mol Cell 2001; 8:885–897.

191.Slack RS, Miller FD. Retinoblastoma gene in mouse neural development. Dev Genet 1996; 18:81–91.

192.Ferguson KL, Slack RS. The Rb pathway in neurogenesis. Neuroreport 2001; 12:A55– 62.

193.Lee JE. Basic helix-loop-helix genes in neural development. Curr Opin Neurobiol 1997; 7:13–20.

194.Cepko CL. The roles of intrinsic and extrinsic cues and bHLH genes in the determination of retinal cell fates. Curr Opin Neurobiol 1999; 9:37–46.

195.Perron M, Harris WA. Determination of vertebrate retinal progenitor cell fate by the Notch pathway and basic helix-loop-helix transcription factors. Cell Mol Life Sci 2000; 57:215–223.

196.Vetter ML, Brown NL. The role of basic helix-loop-helix genes in vertebrate retinogenesis. Semin Cell Dev Biol 2001; 12:491–498.

197.Lin SC, Skapek SX, Lee EY. Genes in the RB pathway and their knockout in mice. Semin Cancer Biol 1996; 7:279–289.

198.Toma JG, El-Bizri H, Barnabe-Heider F, Aloyz R, Miller FD. Evidence that helix-loop- helix proteins collaborate with retinoblastoma tumor suppressor protein to regulate cortical neurogenesis. J Neurosci 2000; 20:7648–7656.

199.Lekstrom-Himes J, Xanthopoulos KG. Biological role of the CCAAT/enhancerbinding protein family of transcription factors. J Biol Chem 1998; 273:28545–28548.

200.Yamanaka R, Lekstrom-Himes J, Barlow C, Wynshaw-Boris A, Xanthopoulos KG. CCAAT/enhancer binding proteins are critical components of the transcriptional regulation of hematopoiesis. Int J Mol Med 1998; 1:213–221.

201.Darlington GJ, Ross SE, MacDougald OA. The role of C/EBP genes in adipocyte differentiation. J Biol Chem 1998; 273:30057–30060.

202.Cowherd RM, Lyle RE, McGehee RE, Jr. Molecular regulation of adipocyte differentiation. Semin Cell Dev Biol 1999; 10:3–10.

203.Diehl AM. Roles of CCAAT/enhancer-binding proteins in regulation of liver regenerative growth. J Biol Chem 1998; 273:30843–30846.

204.Classon M, Kennedy BK, Mulloy R, Harlow E. Opposing roles of pRB and p107 in adipocyte differentiation. Proc Natl Acad Sci USA 2000; 97:10826–10831.

205.Porse BT, Pedersen TA, Xiufeng X, Lindberg B, Wewer U, Friis-Hansen L, Nerlov C. E2F repression by C/EBPa is required for adipogenesis and granulopoiesis. Cell 2001; 107:247–258.

206.Ducy P. Cbfa1: a molecular switch in osteoblast biology. Dev Dyn 2000; 219:461– 471.

207.Lemercier C, Duncliffe K, Boibessot I, Zhang H, Verdel A, Angelov D, Khochbin S. Involvement of retinoblastoma protein and HBP1 in histone H1(0) gene expression. Mol Cell Biol 2000; 20:6627–6637.

208.Bernards R, Schackleford GM, Gerber MR, Horowitz JM, Friend SH, Schartl M, Bogenmann E, Rapaport JM, McGee T, Dryja TP, et al. Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. Proc Natl Acad Sci USA 1989; 86:6474–6478.

178

Van Quill and O’Brien

209.Gallie BL, Campbell C, Devlin H, Duckett A, Squire JA. Developmental basis of retinal-specific induction of cancer by RB mutation. Cancer Res 1999; 59:1731s–1735s.

210.Partridge JF, La Thangue NB. A developmentally regulated and tissue-dependent transcription factor complexes with the retinoblastoma gene product. EMBO J 1991; 10:3819–3827.

211.Hu QJ, Dyson N, Harlow E. The regions of the retinoblastoma protein needed for binding to adenovirus E1A or SV40 large T antigen are common sites for mutations. EMBO J 1990; 9:1147–1155.

212.Kaelin WG, Jr., Ewen ME, Livingston DM. Definition of the minimal simian virus 40 large T antigenand adenovirus E1A-binding domain in the retinoblastoma gene product. Mol Cell Biol 1990; 10:3761–3769.

213.Huang S, Wang NP, Tseng BY, Lee WH, Lee EH. Two distinct and frequently mutated regions of retinoblastoma protein are required for binding to SV40 T antigen. EMBO J 1990; 9:1815–1822.

214.Sellers WR, Rodgers JW, Kaelin WG, Jr. A potent transrepression domain in the retinoblastoma protein induces a cell cycle arrest when bound to E2F sites. Proc Natl Acad Sci USA 1995; 92:11544–11548.

215.Dahiya A, Gavin MR, Luo RX, Dean DC. Role of the LXCXE binding site in Rb function. Mol Cell Biol 2000; 20:6799–6805.

216.Hiebert SW. Regions of the retinoblastoma gene product required for its interaction with the E2F transcription factor are necessary for E2 promoter repression and pRbmediated growth suppression. Mol Cell Biol 1993; 13:3384–3391.

217.Harbour JW. Overview of RB gene mutations in patients with retinoblastoma: implications for clinical genetic screening. Ophthalmology 1998; 105:1442–1447.

218.Welch PJ, Wang JY. A C-terminal protein-binding domain in the retinoblastoma protein regulates nuclear c-Abl tyrosine kinase in the cell cycle. Cell 1993; 75:779– 790.

219.Whitaker LL, Su H, Baskaran R, Knudsen ES, Wang JY. Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): Contribution from the RB C pocket. Mol Cell Biol 1998; 18:4032–4042.

220.Zacksenhaus E, Bremner R, Phillips RA, Gallie BL. A bipartite nuclear localization signal in the retinoblastoma gene product and its importance for biological activity. Mol Cell Biol 1993; 13:4588–4599.

221.Bremner R, Du DC, Connolly-Wilson MJ, Bridge P, Ahmad KF, Mostachfi H, Rushlow D, Dunn JM, Gallie BL. Deletion of RB exons 24 and 25 causes lowpenetrance retinoblastoma. Am J Hum Genet 1997; 61:556–570.

222.Xiao ZX, Chen J, Levine AJ, Modjtahedi N, Xing J, Sellers WR, Livingston DM. Interaction between the retinoblastoma protein and the oncoprotein mdm2. Nature 1995; 375:694–698.

223.Yap DBS, Hsieh J-K, Chan FSG, Lu X. mdm2: A bridge over the two tumor suppressors, p53 and Rb. Oncogene 1999; 18:7681–7689.

224.Hsieh JK, Chan FS, O’Connor DJ, Mittnacht S, Zhong S, Lu X. RB regulates the stability and the apoptotic function of p53 via mdm2. Mol Cell 1999; 3:181–193.

225.Durfee T, Becherer K, Chen PL, Yeh SH, Yang Y, Kilburn AE, Lee WH, Elledge SJ. The retinoblastoma protein associates with the protein phosphatase type 1 catalytic subunit. Genes Dev 1993; 7:555–569.

226.Durfee T, Mancini MA, Jones D, Elledge SJ, Lee WH. The amino-terminal region of the retinoblastoma gene product binds a novel nuclear matrix protein that co-localizes to centers for RNA processing. J Cell Biol 1994; 127:609–622.

227.Sterner JM, Murata Y, Kim HG, Kennett SB, Templeton DJ, Horowitz JM. Detection of a novel cell cycle-regulated kinase activity that associates with the amino terminus of the retinoblastoma protein in G2/M phases. J Biol Chem 1995; 270:9281–9288.