Atlas of Genetics and Cytogenetics in Oncology and Haematology
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
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CDKN1B (cyclin-dependent kinase inhibitor 1 B)
| Identity |
| Other names | KIP1 |
| P27KIP1 | |
| HGNC (Hugo) | CDKN1B |
| LocusID (NCBI) | 1027 |
| Location | 12p13.1 |
| Location_base_pair | Starts at 12870204 and ends at 12875316 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| Local_order | centromere - CDNK1B - ETV6 - PRB - KCNA5 - CACNL1A1 - telomere |
 | |
| CDK1B (12p3) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| DNA/RNA |
| Description | coding region from two exons |
| Transcription | 2.5 Kb mRNA; CDKN1B gene regulation by extracellular antiproliferative signals occurs at a post-transcriptional level |
| Protein |
| Description | 198 amino-acids; 22 kDa; homology to WAF1, limited to a 60 amino acid segment in the N-term half of the protein (residues 28-88); putative bipartite nuclear localization signal near the C-term (153-169); C-term extension of 23 amino acids that contains a consensus Cdc2 phosphorylation site. |
| Expression | expressed in all tissues tested; high levels in skeletal muscle, low levels in liver and kidney. |
| Localisation | nuclear. |
| Function | - CDKN1B is a negative regulator implicated in G1 arrest mediated by TGFb, cell-cell contact, agents that elevate cyclic AMP and rapamycin; CDKN1B binds to and acts as a stoichiometric inhibitor of G1-cyclin-cyclin dependent kinase complexes (cyclin E-Cdk2, cyclin A-Cdk2, cyclin D-Cdk4 (restriction point), controlling G1 to S phase transition or exit from the cell cycle; CDKN1B coordinates the varied inputs from the extracellular environment; post-translational ubiquitin-mediated proteasomal proteolysis represents the major regulatory influence of CDKN1B protein level. - in CDKN1B knockout mouse, CDKN1B defect causes multi-organ hyperplasia with features of gigantism, abnormalities of thymus, retina, pituitary, adrenal glands and gonadal organs (ovulatory defect and female sterility). |
| Homology | Cip1/WAF1 |
| Implicated in |
| Entity | haematological malignancies. |
| Note | hemizygous interstitial deletion is found in 10% of cytogenetically normal ANLL; monoallelic deletion found in 5% ANLL cases, but not described in ALL; no case so far of CDKN1B mutations in leukemia samples. |
| Entity | primary breast cancers |
| Prognosis | a low nuclear expression of CDKN1B protein is a significant predictor of poor disease-free survival; in contrary, high level of CDKN1B protein expression combined with low level expression of its target (cyclin E-Cdk2) correlates with about 90% 10-yr overall survival in the lymph node-negative subgroup. |
| Entity | primary colorectal carcinomas |
| Prognosis | CDKN1B is an independent prognostic marker: low levels are significantly correlated with a poor prognosis. |
| Other Leukemias implicated (Data extracted from papers in the Atlas) |
| Leukemias | 11q23ChildAMLID1615 | 11q23ID1030 | 11q23secondLeukID1131 |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) |
| Solid Tumors | AmeloblastomID5945 | MedulloblastomaID5065 | rhabID5004 |
| External links |
| Bibliography |
| Cloning of p27Kip1, a cyclin-dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals. |
| Polyak K, Lee MH, Erdjument-Bromage H, Koff A, Roberts JM, Tempst P, Massagu© J |
| Cell. 1994 ; 78 (1) : 59-66. |
| PMID 8033212 |
| p27, a novel inhibitor of G1 cyclin-Cdk protein kinase activity, is related to p21. |
| Toyoshima H, Hunter T |
| Cell. 1994 ; 78 (1) : 67-74. |
| PMID 8033213 |
| Assignment of the human p27Kip1 gene to 12p13 and its analysis in leukemias. |
| Pietenpol JA, Bohlander SK, Sato Y, Papadopoulos N, Liu B, Friedman C, Trask BJ, Roberts JM, Kinzler KW, Rowley JD |
| Cancer research. 1995 ; 55 (6) : 1206-1210. |
| PMID 7882309 |
| Translational control of p27Kip1 accumulation during the cell cycle. |
| Hengst L, Reed SI |
| Science (New York, N.Y.). 1996 ; 271 (5257) : 1861-1864. |
| PMID 8596954 |
| Germline configuration of the p27(Kip1) gene in childhood acute lymphoblastic leukemia (ALL). |
| Seriu T, Erz D, Bartram CR |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (2) : page 345. |
| PMID 8637245 |
| Deletions of CDKN1B and ETV6 in acute myeloid leukemia and myelodysplastic syndromes without cytogenetic evidence of 12p abnormalities. |
| Andreasson P, Johansson B, Arheden K, Billstrm R, Mitelman F, Hglund M |
| Genes, chromosomes & cancer. 1997 ; 19 (2) : 77-83. |
| PMID 9171997 |
| Decreased levels of the cell-cycle inhibitor p27Kip1 protein: prognostic implications in primary breast cancer. |
| Catzavelos C, Bhattacharya N, Ung YC, Wilson JA, Roncari L, Sandhu C, Shaw P, Yeger H, Morava-Protzner I, Kapusta L, Franssen E, Pritchard KI, Slingerland JM |
| Nature medicine. 1997 ; 3 (2) : 227-230. |
| PMID 9018244 |
| Molecular analysis of cyclin-dependent kinase inhibitors in human leukemias. |
| Hayette S, Thomas X, Bertrand Y, Tigaud I, Callanan M, Thiebaut A, Charrin C, Archimbaud E, Magaud JP, Rimokh R |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1997 ; 11 (10) : 1696-1699. |
| PMID 9324291 |
| Increased proteasome-dependent degradation of the cyclin-dependent kinase inhibitor p27 in aggressive colorectal carcinomas. |
| Loda M, Cukor B, Tam SW, Lavin P, Fiorentino M, Draetta GF, Jessup JM, Pagano M |
| Nature medicine. 1997 ; 3 (2) : 231-234. |
| PMID 9018245 |
| Expression of cell-cycle regulators p27Kip1 and cyclin E, alone and in combination, correlate with survival in young breast cancer patients. |
| Porter PL, Malone KE, Heagerty PJ, Alexander GM, Gatti LA, Firpo EJ, Daling JR, Roberts JM |
| Nature medicine. 1997 ; 3 (2) : 222-225. |
| PMID 9018243 |
| Cancer prognostics: past, present and p27. |
| Steeg PS, Abrams JS |
| Nature medicine. 1997 ; 3 (2) : 152-154. |
| PMID 9018230 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 05-1998 | Chrystele Bilhou-Nabera |
| Citation |
| This paper should be referenced as such : |
| Bilhou-Nabera, C |
| CDKN1B (cyclin-dependent kinase inhibitor 1 B ) |
| Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):115-116. |
| Free journal version : [ pdf ] [ DOI ] |
| URL : http://AtlasGeneticsOncology.org/Genes/CDKN1BID116.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Feb 17 20:20:17 CET 2015 |
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