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Published on: June 27, 2020
Evaluation of ETF1/eRF1, mapping to 5q31, as a candidate myeloid tumor suppressor gene
Christèle Dubourg1, Bertrand Toutain, Catherine Hélias
1Département de Biochimie et Biologie Moléculaire, UMR 6061, Faculté de Médecine CS 34317, 35043 Rennes Cedex, France.
Abstract:
Interstitial deletion of the long arm of chromosome 5 is a recurrent abnormality, mainly associated with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), and it has been proposed therefore that the deleted region may contain a myeloid tumor suppressor gene. We have recently mapped a human translation termination factor gene, ETF1, to band 5q31 at D5S500, and thus to the smallest commonly deleted segment. We have evaluated ETF1 as a candidate myeloid tumor suppressor gene by analysis of the human acute myeloid leukemia cell line HL60, and of patients suffering from malignant myeloid diseases with cytogenetically-defined abnormalities of chromosome 5. Fluorescence in situ hybridization analysis revealed hemizygous loss of the ETF1 locus in HL60 cells and in four of five leukemic samples, but no inactivating mutations were identified by sequencing of the remaining ETF1 allele.
Insights
Interstitial deletion on chromosome 5q is linked to myeloid cancers. The ETF1 gene, located in this deleted region, was investigated as a potential tumor suppressor but showed no inactivating mutations in analyzed leukemia samples.
Area of Science:
- Genetics
- Molecular Biology
- Oncology
Background:
- Interstitial deletion of chromosome 5 long arm (5q) is a common abnormality in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
- The 5q deletion region is hypothesized to harbor a myeloid tumor suppressor gene.
- The human translation termination factor gene, ETF1, has been mapped to the commonly deleted segment at 5q31.
Purpose of the Study:
- To evaluate ETF1 as a candidate myeloid tumor suppressor gene.
- To analyze ETF1 in the context of malignant myeloid diseases with 5q abnormalities.
Main Methods:
- Fluorescence in situ hybridization (FISH) to detect hemizygous loss of the ETF1 locus.
- Sequencing of the remaining ETF1 allele to identify inactivating mutations.
- Analysis of the HL60 human acute myeloid leukemia cell line and primary patient samples.
Main Results:
- Hemizygous loss of the ETF1 locus was observed in HL60 cells.
- Four out of five leukemic patient samples with 5q abnormalities showed hemizygous loss of ETF1.
- No inactivating mutations were found in the remaining ETF1 allele in the analyzed samples.
Conclusions:
- ETF1 is frequently hemiziguously deleted in myeloid malignancies with 5q abnormalities.
- The absence of inactivating mutations suggests ETF1 may not function as a classical myeloid tumor suppressor through mutation.
- Further investigation is needed to fully elucidate ETF1's role in myeloid cancer development.
