| http://purl.uniprot.org/citations/8700545 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8700545 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8700545 | http://www.w3.org/2000/01/rdf-schema#comment | "Overexpression of the Evi-1 gene appears to be a consistent feature of the 3q21q26 syndrome, an association of myeloid leukemias/myelodysplastic syndrome with a specific chromosomal aberration involving both 3q21 and 3q26, such as t(3;3)(q21;q26) or inv(3)(q21q26). The rearrangement in 3q26 has been reported to occur near the Evi-1 locus, implicating that it is the critical gene deregulated in the 3q21q26 syndrome. Here we present a structural abnormality of Evi-1 protein in a case with the 3q21q26 syndrome. In this case carrying typical inv(3)(q21q26), the 3q26 breakpoint is located within an intron of the Evi-1 gene, and resulted in overexpression of normally unexpressed, an aberrant form of Evi-1 protein, in which the C-terminal 44 amino acids of wild-type Evi-1 protein were truncated and replaced by five amino acids. The truncated Evi-1 protein is shown to increase AP1 activity when expressed in NIH3T3 cells as its wild-type counterpart. We also show that the origin of this peculiar type of rearrangement of the Evi-1 gene is not an artifact during establishment of the cell line, but is the event that occurred in the primary leukemic cells. Our results strongly support that the primary target for the 3q21q26 syndrome is the Evi-1 gene, and provide the first evidence that the structurally altered Evi-1 gene may be involved in the 3q21q26 syndrome."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Tanaka K."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Tanaka K."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Hangaishi A."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Hangaishi A."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Hirai H."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Hirai H."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Inazawa J."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Inazawa J."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Mitani K."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Mitani K."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Tanaka T."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Tanaka T."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Ogawa S."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Ogawa S."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Matsuo Y."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Matsuo Y."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Yazaki Y."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Yazaki Y."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Tsubota T."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Tsubota T."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Kurokawa M."xsd:string |
| http://purl.uniprot.org/citations/8700545 | http://purl.uniprot.org/core/author | "Kurokawa M."xsd:string |