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economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas).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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PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin))
| Identity |
| Other names | CMYA2 |
| KIAA0477 | |
| KIAA0454 | |
| MMGL | |
| Myomegalin | |
| HGNC (Hugo) | PDE4DIP |
| LocusID (NCBI) | 9659 |
| Location | 1q21.1 |
| Location_base_pair | Starts at 144951761 and ends at 144995033 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| Transcription | Various splicing forms, in particular KIAA0477 and KIAA0454 |
| Protein |
| Note | The protein encoded by PDE4DIP is called myomegalin |
| Description | Large protein; some isoforms having more than 2300 aminoacids (62 kDa and 230-250 kDa proteins in the rat ortholog); mainly composed of alpha-helical and coiled-coil structures; includes a leucine zipper in N-term, a dynactin-centractin binding domain, and a helix-loop-helix. |
| Expression | in heart and skeletal muscles; little expression in other tissues |
| Localisation | Cytoplasm in the Golgi/centrosomal area in non muscle cells and nucleus; in the sarcomeres of muscle cells |
| Function | Interacts with the cyclic nucleotide phosphodiesterase PDE4D, enzymes that degrade and inactivate cAMP; may oligomerize |
| Homology | With the Drosophila centrosomin (a component of the centrosome and the mitotic spindle) |
| Implicated in |
| Entity | t(1;5)(q22;q33) in chronic eosinophilic leukemia --> PDE4DIP - PDGFRB |
| Note | KIAA0477 isoforms was found involved in the hybrid gene / fusion protein. |
| Disease | Rare disease mainly found in infants. |
| Prognosis | Treatment with imatinib may be relevant. |
| Other Leukemias implicated (Data extracted from papers in the Atlas) |
| Leukemias | 11q23ChildAMLID1615 |
| External links |
| Bibliography |
| Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase. |
| Verde I, Pahlke G, Salanova M, Zhang G, Wang S, Coletti D, Onuffer J, Jin SL, Conti M |
| The Journal of biological chemistry. 2001 ; 276 (14) : 11189-11198. |
| PMID 11134006 |
| Isolation of novel heart-specific genes using the BodyMap database. |
| Soejima H, Kawamoto S, Akai J, Miyoshi O, Arai Y, Morohka T, Matsuo S, Niikawa N, Kimura A, Okubo K, Mukai T |
| Genomics. 2001 ; 74 (1) : 115-120. |
| PMID 11374908 |
| Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. |
| Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp MA, Aguiar RC |
| Blood. 2003 ; 102 (12) : 4187-4190. |
| PMID 12907457 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 05-2006 | Jean Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| PDE4DIP (phosphodiesterase 4D interacting protein (myomegalin)) |
| Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):227-227. |
| Free journal version : [ pdf ] [ DOI ] |
| URL : http://AtlasGeneticsOncology.org/Genes/PDE4DIP01q22ID180.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Feb 17 20:38:43 CET 2015 |
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