Atlas of Genetics and Cytogenetics in Oncology and Haematology
CCND1 (B-cell leukemia/lymphoma 1)
| Identity |
| Other names | BCL1 (B-cell leukemia/lymphoma 1) |
| PRAD1 (parathyroid adenomatosis 1) | |
| HGNC (Hugo) | CCND1 |
| Location | 11q13 |
| Location_base_pair | Starts at 69455873 and ends at 69469241 bp from pter ( according to hg19-Feb_2009) [Mapping] |
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| BCL1 (11q13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it | |
| DNA/RNA |
| Description | 5 exons |
| Transcription | major transcript: 4.5 kb; coding sequence: CDS 148...1035 |
| Protein |
| Description | the gene encodes the cyclin D1; 295 amino acids; 36 kDa |
| Expression | no normal expression in lymphocytes; cell cycle dependant expression: maximal expression in G1, minimal in S |
| Localisation | mainly nuclear |
| Function | cell cycle control: G1 progression and G1/S transition; forms complexes with CDK4 and 6, and further with RB1; phosphorylation of RB1 by cyclin D1/CDK4 removes the cell cycle arrestin G1/S start point; inhibited by P21, P15, and P16. |
| Homology | with other cyclins |
| Implicated in |
| Entity | t(11;14)(q13;q32)/B-cell malignancies --> BCL1 - IgH |
| Disease | t(11;14) is mainly found in mantle cell lymphoma; also in: B-prolymphocytic leukaemia, plasma cell leukaemia, splenic lymphoma with villous lymphocytes; rarely in: chronic lymphocytic leukaemia, multiple myeloma |
| Prognosis | according to the disease |
| Cytogenetics | complex karyotypes |
| Hybrid/Mutated Gene | 5' BCL1 translocated on chromosome 14 near JH (junctions genes of IgH) and C in 3'. |
| Abnormal Protein | no fusion protein, but promoter exchange; the immunoglobulin gene enhancer stimulates the expression of BCL1. |
| Oncogenesis | overexpression of BCL1 accelerates the cell transit through the G1 phase. |
| Entity | parathyroid adenomatosis |
| Hybrid/Mutated Gene | with PTH, the parathyroid hormone gene, sitting in 11p15 |
| Breakpoints |
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| External links |
| Bibliography |
| PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma. |
| Rosenberg CL, Wong E, Petty EM, Bale AE, Tsujimoto Y, Harris NL, Arnold A |
| Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (21) : 9638-9642. |
| PMID 1682919 |
| Rearrangement and overexpression of the BCL-1/PRAD-1 gene in intermediate lymphocytic lymphomas and in t(11q13)-bearing leukemias. |
| Rimokh R, Berger F, Delsol G, Charrin C, Berthˆ©as MF, Ffrench M, Garoscio M, Felman P, Coiffier B, Bryon PA |
| Blood. 1993 ; 81 (11) : 3063-3067. |
| PMID 8499640 |
| PRAD-1/cyclin D1 gene overexpression in chronic lymphoproliferative disorders: a highly specific marker of mantle cell lymphoma. |
| Bosch F, Jares P, Campo E, Lopez-Guillermo A, Piris MA, Villamor N, Tassies D, Jaffe ES, Montserrat E, Rozman C |
| Blood. 1994 ; 84 (8) : 2726-2732. |
| PMID 7919385 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 05-1998 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . CCND1 (B-cell leukemia/lymphoma 1). Atlas Genet Cytogenet Oncol Haematol. May 1998 . URL : http://AtlasGeneticsOncology.org/Genes/BCL1.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jul 15 14:48:11 CEST 2010 |
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