Reference - Detail
| RRC ID | 43000 |
|---|---|
| Author | Nemoto N, Suzukawa K, Shimizu S, Shinagawa A, Takei N, Taki T, Hayashi Y, Kojima H, Kawakami Y, Nagasawa T. |
| Title | Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23). |
| Journal | Genes Chromosomes Cancer |
| Abstract |
We have identified a novel fusion partner of MLL, namely the mastermind like 2 (MAML2 gene), in secondary acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) with inv(11)(q21q23). RT-PCR and sequencing revealed that exon 7 of MLL was fused to exon 2 of MAML2 in the AML and MDS cells. The inv(11)(q21q23) results in the creation of a chimeric RNA encoding a putative fusion protein containing 1,408 amino acids from the NH2-terminal part of MLL and 952 amino acids from the COOH-terminal part of MAML2. The NH2-terminal part of MAML2, a basic domain including a binding site of the intracellular domain of NOTCH, was deleted in MLL-MAML2. MLL-MAML2 in secondary AML/MDS and MECT1-MAML2 in mucoepithelioid carcinoma, benign Wartin's tumor, and clear cell hidradenoma consist of the same COOH-terminal part of MAML2. A luciferase assay revealed that MLL-MAML2 suppressed HES1 promoter activation by the NOTCH1 intracellular domain. MAML2 involving a chimeric gene might contribute to carcinogenesis in multiple neoplasms by the disruption of NOTCH signaling. |
| Volume | 46(9) |
| Pages | 813-9 |
| Published | 2007-9-1 |
| DOI | 10.1002/gcc.20467 |
| PMID | 17551948 |
| MeSH | Aged Antineoplastic Agents / adverse effects Chromosomes, Human, Pair 11 / genetics* DNA-Binding Proteins / genetics* DNA-Binding Proteins / metabolism Exons Female Histone-Lysine N-Methyltransferase Humans Leukemia, Myeloid, Acute / chemically induced Leukemia, Myeloid, Acute / genetics* Leukemia, Myeloid, Acute / metabolism Male Middle Aged Myelodysplastic Syndromes / genetics* Myelodysplastic Syndromes / metabolism Myeloid-Lymphoid Leukemia Protein / genetics* Myeloid-Lymphoid Leukemia Protein / metabolism Nuclear Proteins / genetics* Nuclear Proteins / metabolism Oncogene Proteins, Fusion / genetics* Oncogene Proteins, Fusion / metabolism Protein Structure, Tertiary Trans-Activators Transcription Factors / genetics* Transcription Factors / metabolism |
| IF | 3.444 |
| Times Cited | 29 |
| WOS Category | GENETICS & HEREDITY ONCOLOGY |
| Altmetric score |
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| The most frequently cited source | Wikipedia |
| Total number of mentions | 3 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| Human and Animal Cells | KG-1(RCB1166) 293(RCB1637) |