| Identity |
| Other names | Myosin heavy chain, nonmuscle type A |
| Nonmuscle myosin heavy chain-A (NMMHC-A) | |
| HGNC (Hugo) | MYH9 |
| Location | 22q12 |
| Location_base_pair | Starts at 35007270 and ends at 35114009 bp from pter ( according to hg18-Mar_2006) [Mapping] |
| DNA/RNA |
| Description | spans 107 kb; 40 exons |
| Transcription | alternate splicing; transcripts of 4.4, 5.3 and 5.9 kb |
| Protein |
| Description | 1960 amino acids; 227 kDa (and 1752 aa, 202 kDa, and 1486 aa, 172 kDa; globular head in N-term and a coiled-coil tail in C-term; actin binding site and light chains binding site are present in the globular domain. Myosin forms hexamers with 2 heavy chains, 2 essential (alkali) light chains, and 2 regulatory light chains |
| Expression | in platelets; upregulated during granulocyte differentiation (see below); also expressed in thymus, spleen, kidney, intestine, cochlea .... |
| Function | binds actin; protein of the cytoskeleton; role in cell shape and motility, and in cell division |
| Mutations |
| Germinal | in autosomal dominant giant-platelet disorders |
| Somatic | in non Hodgkin lymphomas |
| Implicated in |
| Disease | The autosomal dominant giant-platelet disorders, May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), and Sebastian syndrome (SBS), which share a triad of thrombocytopenia, large platelets (macrothrombocytopenia (MTCP)) and characteristic leukocyte inclusions (Dohle-like bodies), Epstein syndrome, which associates additional Alport-like clinical features (inherited sensorineural deafness, cataracts, nephritis), and MTCP without leukocyte inclusions, as well as a nonsyndromic hereditary hearing impairment are all caused by (germinal) mutations in MYH9. These disorders appear to represent a class of allelic disorders with variable phenotypic diversity. No clear no genotype-phenotype correlation was identified |
| Entity | Anaplasic large cell lymphoma (ALCL) with t(2;22)(p23;q12) --> ALK- CLTC |
| Disease | ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset. |
| Prognosis | Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly |
| Hybrid/Mutated Gene | 5' MYH9 - 3' ALK |
| Abnormal Protein | NH2 MYH9 - COOH ALK |
| External links |
| Bibliography |
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. |
| Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA |
| Nature genetics. 2000 ; 26 (1) : 103-105. |
| PMID 10973259 |
| Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. |
| Kelley MJ, Jawien W, Ortel TL, Korczak JF |
| Nature genetics. 2000 ; 26 (1) : 106-108. |
| PMID 10973260 |
| Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. |
| Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN |
| American journal of human genetics. 2000 ; 67 (5) : 1121-1128. |
| PMID 11023810 |
| Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. |
| Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song KS, Yoon HJ, Kamiya T, Saito H |
| Journal of human genetics. 2001 ; 46 (12) : 722-729. |
| PMID 11776386 |
| Five (un)easy pieces: the MYH9-related giant platelet syndromes. |
| Martignetti J |
| Haematologica. 2002 ; 87 (9) : 897-898. |
| PMID 12217798 |
| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. |
| Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A |
| Medicine. 2003 ; 82 (3) : 203-215. |
| PMID 12792306 |
| Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma. |
| Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E |
| Genes, chromosomes & cancer. 2003 ; 37 (4) : 427-432. |
| PMID 12800156 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 08-2003 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . MYH9 (myosin, heavy polypeptide 9, non-muscle). Atlas Genet Cytogenet Oncol Haematol. August 2003 . URL : http://AtlasGeneticsOncology.org/Genes/MYH9ID481.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 27 10:49:08 CET 2010 |
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