Atlas of Genetics and Cytogenetics in Oncology and Haematology
RB1 (retinoblastoma)
| Identity |
| Other names | human retinoblastoma suspectibility gene |
| HGNC (Hugo) | RB1 |
| Location | 13q14 |
| Location_base_pair | Starts at 47775884 and ends at 47954027 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
 | |
| c-RB1 at 13q14 in normal cells: PAC 825K22 (top) and PAC 971H14 (bottom) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi | |
| Description | 27 exons spanning 180 kb |
| Transcription | 4.7 kb mRNA, 2.7 kb open reading frame, 2 kb 3´-UTR |
| Protein |
| Description | 928aa nuclear phosphoprotein; 110 kDa; pRB is phosphorylated by members of the cyclin-dependent kinase (cdk) system prior to the entry into S-phase; hypophosphorylated pRB binds to members of the E2F family of transcription factors; binding to E2F is mediated by by two domains within pRB (pocket domains) |
| Expression | ubiquitous |
| Localisation | nucleus |
| Function | cell cycle regulation, differentiation |
| Homology | pRB, p107, and p130 constitute a small family of nuclear proteins with significant sequence similarity in two discontinuous areas (pockets domains); conditional on the phosphorylation status, these pocket proteins can bind transforming proteins of DNA tumor viruses as well as nuclear proteins |
| Mutations |
| Germinal | germline mutations in the RB1 gene are causative for hereditary predisposition to retinoblastoma; the spectrum of predisposing mutations includes large deletions (about 20%), single base substitutions (about 50%) and small length mutations (about 30%); most mutations are associated with almost complete penetrance: some rare alleles show incomplete penetrace and reduced expressivity (low penetrance retinoblastoma) |
| Somatic | in retinoblastomas, both RB1 alleles are mutated; in addtion to the mutational spectrum of germinal mutations, retinoblastomas can show loss of heterozygosity and hypermethylation at the CpG-island associated with the 5Œ-end of the RB1 gene |
| Implicated in |
| Entity | Retinoblastoma |
| Disease | hereditary predisposition to retinoblastoma formation in carrieres of a germinal mutation somatic inactivation of both RB1 alleles can result in sporadic unilateral retinobalstoma |
| Entity | Sarcomas |
| Disease | carriers of a germinal RB1gene mutation are predisposed to soft tissue sarcomas and osteogenic sarcomas somatic inactivation of both RB1 alleles observed in some sarcomas |
| Entity | various cancers |
| Disease | RB1 gene mutations have been observed in several tumor entities. In lung cancer there is a notable high frequency of RB1 gene mutations although no increased incidence of these tumors has been observed in carriers of a germinal RB1 gene mutation. |
| External links |
| Bibliography |
| Genomic organization of the human retinoblastoma gene. |
| T'Ang A, Wu KJ, Hashimoto T, Liu WY, Takahashi R, Shi XH, Mihara K, Zhang FH, Chen YY, Du C |
| Oncogene. 1989 ; 4 (4) : 401-407. |
| PMID 2717184 |
| The retinoblastoma protein is phosphorylated on multiple sites by human cdc2. |
| Lees JA, Buchkovich KJ, Marshak DR, Anderson CW, Harlow E |
| The EMBO journal. 1991 ; 10 (13) : 4279-4290. |
| PMID 1756735 |
| The interaction of RB with E2F coincides with an inhibition of the transcriptional activity of E2F. |
| Hiebert SW, Chellappan SP, Horowitz JM, Nevins JR |
| Genes & development. 1992 ; 6 (2) : 177-185. |
| PMID 1531329 |
| Complete genomic sequence of the human retinoblastoma susceptibility gene. |
| Toguchida J, McGee TL, Paterson JC, Eagle JR, Tucker S, Yandell DW, Dryja TP |
| Genomics. 1993 ; 17 (3) : 535-543. |
| PMID 7902321 |
| The retinoblastoma protein and cell cycle control. |
| Weinberg RA |
| Cell. 1995 ; 81 (3) : 323-330. |
| PMID 7736585 |
| RB kinases and RB-binding proteins: new points of view. |
| Taya Y |
| Trends in biochemical sciences. 1997 ; 22 (1) : 14-17. |
| PMID 9020586 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 09-1999 | Dietmar R Lohmann |
| Institut fuer Humangenetik, Hufelandstr. 55, D-45122 Essen, Germany |
| Citation |
| This paper should be referenced as such : |
| Lohmann DR . RB1 (retinoblastoma). Atlas Genet Cytogenet Oncol Haematol. September 1999 . URL : http://AtlasGeneticsOncology.org/Genes/RB1ID90.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jun 27 16:38:44 CEST 2009 |
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