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Structurally altered Evi-1 protein generated in the 3q21q26 syndrome
S Ogawa1, M Kurokawa, T Tanaka
1Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Oncogene
|July 4, 1996
Summary
The Evi-1 gene is implicated in the 3q21q26 syndrome, a myeloid leukemia characterized by chromosomal abnormalities. This study reveals a structurally altered Evi-1 protein in patients, suggesting its role in the syndrome's development.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- The 3q21q26 syndrome is associated with myeloid leukemias and myelodysplastic syndromes, often involving specific chromosomal rearrangements like t(3;3)(q21;q26) or inv(3)(q21q26).
- The Evi-1 gene, located at 3q26, is consistently overexpressed in this syndrome, suggesting it is a critical target gene.
Purpose of the Study:
- To investigate the structural alterations of the Evi-1 protein in a case of 3q21q26 syndrome.
- To determine if the observed Evi-1 gene rearrangement is an artifact or an event in primary leukemic cells.
Main Methods:
- Analysis of a patient with inv(3)(q21q26) to identify the breakpoint within the Evi-1 gene.
- Expression of wild-type and truncated Evi-1 proteins in NIH3T3 cells to assess AP1 activity.
- Distinguishing between artifactual and primary genetic events in leukemic cells.
Main Results:
- A breakpoint within an Evi-1 gene intron in the patient led to a truncated Evi-1 protein with altered C-terminus.
- The aberrant Evi-1 protein increased AP1 activity, similar to its wild-type counterpart.
- The Evi-1 gene rearrangement was confirmed to occur in primary leukemic cells, not as a cell line artifact.
Conclusions:
- The Evi-1 gene is strongly supported as the primary target in the 3q21q26 syndrome.
- This study provides the first evidence that a structurally altered Evi-1 gene plays a role in the 3q21q26 syndrome.