Molecular Genetics of RB1——The Retinoblastoma Gene

REFERENCES

• Abramson D H. Retinoblastoma incidence in the United States. Arch Ophthalmol 1990; 108(11)1514
   Google Scholar
• Abramson D H. Retinoblastoma in the 20th century: past success and future challenges the Weisenfeld lecture. Invest Ophthalmol Vis Sci 2005; 46(8)2683–2691
   Google Scholar
• Abramson D H, Frank C M, Susman M, Whalen M P, Dunkel I J, Boyd N W, 3rd. Presenting signs of retinoblastoma. J Pediatr 1998; 132: 505–508, (3 Pt 1)
   PubMed Web of Science ®Google Scholar
• Abramson D H, Schefler A C. Update on retinoblastoma. Retina 2004; 24(6)828–848
   PubMed Web of Science ®Google Scholar
• Balmer A, Zografos L, Munier F. Diagnosis and current management of retinoblastoma. Oncogene 2006; 25(38)5341–5349
   Google Scholar
• Boerkoel C F, Exelbert R, Nicastri C, Nichols R C, Miller F W, Plotz P H, et al. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet 1995; 56(4)887–897
   Google Scholar
• Brehm A, Miska E A, McCance D J, Reid J L, Bannister A J, Kouzarides T. Retinoblastoma protein recruits histone deacetylase to repress transcription. Nature 1998; 391(6667)597–601
   PubMed Web of Science ®Google Scholar
• Bremner R, Du D C, Connolly-Wilson M J, Bridge P, Ahmad K F, Mostachfi H, et al. Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. Am J Hum Genet, 1997; 61(3)556–570
   Google Scholar
• Chan H S, Gallie B L, Munier F L, Beck Popovic M. Chemotherapy for retinoblastoma. Ophthalmol Clin North Am 2005; 18(1)55–63; viii
   Google Scholar
• Chen P L, Scully P, Shew J Y, Wang J Y, Lee W H. Phosphorylation of the retinoblastoma gene product is modulated during the cell cycle and cellular differentiation. Cell 1989; 58(6)1193–1198
   Google Scholar
• Chow K N, Dean D C. Domains A and B in the Rb pocket interact to form a transcriptional repressor motif. Mol Cell Biol 1996; 16(9)4862–4868
   PubMedGoogle Scholar
• Connolly M J, Payne R H, Johnson G, Gallie B L, Allderdice P W, Marshall W H, et al. Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity. Hum Genet 1983; 65(2)122–124
   Google Scholar
• De Falco G, Giordano A. pRb2/p130: a new candidate for retinoblastoma tumor formation. Oncogene 2006; 25(38)5333–5340
   Google Scholar
• de Jong P T, Mooy C M, Stoter G, Eijkenboom W M, Luyten G P. Late-onset retinoblastoma in a well-functioning fellow eye. Ophthalmology 2006; 113(6)1040–1044
   Google Scholar
• DeCaprio J A, Ludlow J W, Figge J, Shew J Y, Huang C M, Lee W H, et al. SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene. Cell 1988; 54(2)275–283
   PubMed Web of Science ®Google Scholar
• Draper G J, Sanders B M, Kingston J E. Second primary neoplasms in patients with retinoblastoma. Br J Cancer 1986; 53(5)661–671
   Google Scholar
• Dryja T P, Rapaport J, McGee T L, Nork T M, Schwartz T L. Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am J Hum Genet 1993; 52(6)1122–1128
   Google Scholar
• Dyson N. The regulation of E2F by pRB-family proteins. Genes Dev 1998; 12(15)2245–2262
   PubMed Web of Science ®Google Scholar
• Dyson N, Howley P M, Munger K, Harlow E. The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product. Science 1989; 243(4893)934–937
   PubMed Web of Science ®Google Scholar
• Flemington E K, Speck S H, Kaelin W G, Jr. E2F-1-mediated transactivation is inhibited by complex formation with the retinoblastoma susceptibility gene product. Proc Natl Acad Sci U S A 1993; 90(15)6914–6918
   PubMed Web of Science ®Google Scholar
• Friend S H, Bernards R, Rogelj S, Weinberg R A, Rapaport J M, Albert D M, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986; 323(6089)643–646
   PubMed Web of Science ®Google Scholar
• Frischmeyer P A, Dietz H C. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 1999; 8(10)1893–1900
   PubMed Web of Science ®Google Scholar
• Fung Y K, Murphree A L, T'Ang A, Qian J, Hinrichs S H, Benedict W F. Structural evidence for the authenticity of the human retinoblastoma gene. Science 1987; 236(4809)1657–1661
   PubMed Web of Science ®Google Scholar
• Harbour J W, Dean D C. Rb function in cell-cycle regulation and apoptosis. Nat Cell Biol 2000; 2(4)E65–67
   Google Scholar
• Helin K, Harlow E, Fattaey A. Inhibition of E2F-1 transactivation by direct binding of the retinoblastoma protein. Mol Cell Biol 1993; 13(10)6501–6508
   PubMed Web of Science ®Google Scholar
• Howe H L, Wu X, Ries L A, Cokkinides V, Ahmed F, Jemal A, et al. Annual report to the nation on the status of cancer, 1975-2003, featuring cancer among U.S. Hispanic/Latino populations. Cancer 2006; 107(8)1711–1742
   PubMed Web of Science ®Google Scholar
• Kivela T. Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma. J Clin Oncol, 1999; 17(6)1829–1837
   Google Scholar
• Klutz M, Brockmann D, Lohmann D R. A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. Am J Hum Genet 2002; 71(1)174–179
   Google Scholar
• Klutz M, Horsthemke B, Lohmann D R. RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma. Am J Hum Genet 1999; 64(2)667–668
   Google Scholar
• Knudson A G. Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971; 68(4)820–823
   PubMed Web of Science ®Google Scholar
• Lee J O, Russo A A, Pavletich N P. Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7. Nature 1998; 391(6670)859–865
   PubMed Web of Science ®Google Scholar
• Lee W H, Bookstein R, Hong F, Young L J, Shew J Y, Lee E Y. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 1987; 235(4794)1394–1399
   PubMed Web of Science ®Google Scholar
• Lee W H, Murphree A L, Benedict W F. Expression and amplification of the N-myc gene in primary retinoblastoma. Nature, 1984; 309(5967)458–460
   Google Scholar
• Lohmann D R. RB1 gene mutations in retinoblastoma. Hum Mutat 1999; 14(4)283–288
   PubMed Web of Science ®Google Scholar
• Lohmann D R, Gallie B L. Retinoblastoma: revisiting the model prototype of inherited cancer. Am J Med Genet C Semin Med Genet 2004; 129(1)23–28
   Google Scholar
• Lohmann D R, Gerick M, Brandt B, Oelschlager U, Lorenz B, Passarge E, et al. Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am J Hum Genet 1997; 61(2)282–294
   PubMed Web of Science ®Google Scholar
• Luo R X, Postigo A A, Dean D C. Rb interacts with histone deacetylase to repress transcription. Cell 1998; 92(4)463–473
   PubMed Web of Science ®Google Scholar
• Macklin M T. A study of retinoblastoma in Ohio. Am J Hum Genet, 1960; 12: 1–43
   PubMed Web of Science ®Google Scholar
• Magnaghi-Jaulin L, Groisman R, Naguibneva I, Robin P, Lorain S, Le Villain J P, et al. Retinoblastoma protein represses transcription by recruiting a histone deacetylase. Nature 1998; 391(6667)601–605
   PubMed Web of Science ®Google Scholar
• Mahoney M C, Burnett W S, Majerovics A, Tanenbaum H. The epidemiology of ophthalmic malignancies in New York State. Ophthalmology 1990; 97(9)1143–1147
   Google Scholar
• Nielsen S J, Schneider R, Bauer U M, Bannister A J, Morrison A, O'Carroll D, et al. Rb targets histone H3 methylation and HP1 to promoters. Nature 2001; 412(6846)561–565
   PubMed Web of Science ®Google Scholar
• Otterson G A, Chen W, Coxon A B, Khleif S N, Kaye F J. Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function. Proc Natl Acad Sci U S A 1997; 94(22)12036–12040
   Google Scholar
• Palazzi M, Abramson D H, Ellsworth R M. Endophytic vs exophytic unilateral retinoblastoma: is there any real difference?. J Pediatr Ophthalmol Strabismus 1990; 27(5)255–258
   Google Scholar
• Schultz K R, Ranade S, Neglia J P, Ravindranath Y. An increased relative frequency of retinoblastoma at a rural regional referral hospital in Miraj, Maharashtra, India. Cancer 1993; 72(1)282–286
   Google Scholar
• Sellers W R, Rodgers J W, Kaelin W G, Jr. A potent transrepression domain in the retinoblastoma protein induces a cell cycle arrest when bound to E2F sites. Proc Natl Acad Sci U S A 1995; 92(25)11544–11548
   Google Scholar
• Shen W J, Kim H S, Tsai S Y. Stimulation of human insulin receptor gene expression by retinoblastoma gene product. J Biol Chem 1995; 270(35)20525–20529
   Google Scholar
• Shields C L, Honavar S G, Meadows A T, Shields J A, Demirci H, Naduvilath T J. Chemoreduction for unilateral retinoblastoma. Arch Ophthalmol 2002; 120(12)1653–1658
   Google Scholar
• Shields C L, Shields J A. Basic understanding of current classification and management of retinoblastoma. Curr Opin Ophthalmol, 2006; 17(3)228–234
   PubMed Web of Science ®Google Scholar
• Shields C L, Shields J A, Needle M, de Potter P, Kheterpal S, Hamada A, et al. Combined chemoreduction and adjuvant treatment for intraocular retinoblastoma. Ophthalmology 1997; 104(12)2101–2111
   Google Scholar
• Shields J A, Parsons H M, Shields C L, Shah P. Lesions simulating retinoblastoma. J Pediatr Ophthalmol Strabismus 1991; 28(6)338–340
   Google Scholar
• Shimizu T, Toguchida J, Kato M V, Kaneko A, Ishizaki K, Sasaki M S. Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis. Am J Hum Genet 1994; 54(5)793–800
   Google Scholar
• Sippel K C, Fraioli R E, Smith G D, Schalkoff M E, Sutherland J, Gallie B L, et al. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet 1998; 62(3)610–619
   Google Scholar
• Stein G H, Beeson M, Gordon L. Failure to phosphorylate the retinoblastoma gene product in senescent human fibroblasts. Science 1990; 249(4969)666–669
   Google Scholar
• Strong L C, Riccardi V M, Ferrell R E, Sparkes R S. Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science 1981; 213(4515)1501–1503
   PubMedGoogle Scholar
• Suckling R D, Fitzgerald P H, Stewart J, Wells E. The incidence and epidemiology of retinoblastoma in New Zealand: A 30-year survey. Br J Cancer 1982; 46(5)729–736
   Google Scholar
• Tamboli A, Podgor M J, Horm J W. The incidence of retinoblastoma in the United States: 1974 through 1985. Arch Ophthalmol 1990; 108(1)128–132
   Google Scholar
• Toguchida J, McGee T L, Paterson J C, Eagle J R, Tucker S, Yandell D W, et al. Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics 1993; 17(3)535–543
   Google Scholar
• Walton D S, Mukai S, Grabowski E F, Munzenrider J E, Dryja T P. Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. N Engl J Med 2006; 354(7)741–748
   Google Scholar
• Weintraub S J, Chow K N, Luo R X, Zhang S H, He S, Dean D C. Mechanism of active transcriptional repression by the retinoblastoma protein. Nature 1995; 375(6534)812–815
   Google Scholar
• Whitaker L L, Su H, Baskaran R, Knudsen E S, Wang J Y. Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket. Mol Cell Biol 1998; 18(7)4032–4042
   PubMedGoogle Scholar
• Whyte P, Buchkovich K J, Horowitz J M, Friend S H, Raybuck M, Weinberg R A, et al. Association between an oncogene and an anti-oncogene: the adenovirus E1A proteins bind to the retinoblastoma gene product. Nature 1988; 334(6178)124–129
   PubMed Web of Science ®Google Scholar