Atlas of Genetics and Cytogenetics in Oncology and Haematology
MYH11 (myosin heavy chain) (incomplete)
| Identity |
| HGNC (Hugo) | MYH11 |
| Location | 16p13 |
| Location_base_pair | Starts at 15796994 and ends at 15950887 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| Local_order | proximal (in 16p13.1) from CBP |
| DNA/RNA |
 | |
| c-MYH11 (16p13) in normal cells: PAC 114C15 (top) and PAC 893C15 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi | |
| Transcription | alternate splicing in 3¼ |
| Protein |
| Description | the protein¼s name is MYST; 214 KDa, 1857 amino acids known; N-term ATPase globular domain responsible for actin binding and mechanical movement, and a C-term long repeat of coil-coil domain to facilitate filament aggregates; forms hetero-hexameres |
| Expression | smooth muscle |
| Function | muscle contraction |
| Homology | member of the myosin II family |
| Implicated in |
| Entity | inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (ANLL) or myelodysplastic syndromes (MDS) --> CBFb - MYH11 |
| Disease | nearly pathognomonic of M4eo-ANLL: with eosinophilia; frequent CNS involvement |
| Prognosis | high CR rate; better prognosis than most other ANLL |
| Cytogenetics | the 3 chromosome anomalies are variants of each other |
| Hybrid/Mutated Gene | 5¼ CBFb - 3¼ MYH11 |
| Abnormal Protein | the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain |
| External links |
| Bibliography |
| Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia. |
| Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS |
| Blood. 1993 ; 82 (3) : 716-721. |
| PMID 8338941 |
| A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo. |
| van der Reijden BA, Dauwerse JG, Wessels JW, Beverstock GC, Hagemeijer A, van Ommen GJ, Breuning MH |
| Blood. 1993 ; 82 (10) : 2948-2952. |
| PMID 8219185 |
| A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo. |
| van der Reijden BA, Dauwerse JG, Wessels JW, Beverstock GC, Hagemeijer A, van Ommen GJ, Breuning MH |
| Blood. 1993 ; 82 (10) : 2948-2952. |
| PMID 8219185 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 06-1999 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . MYH11 (myosin heavy chain) (incomplete). Atlas Genet Cytogenet Oncol Haematol. June 1999 . URL : http://AtlasGeneticsOncology.org/Genes/MYH11ID43.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jul 15 14:50:13 CEST 2010 |
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