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A point mutation in the c-myc locus of a Burkitt lymphoma abolishes binding of a nuclear protein
M Zajac-Kaye1, E P Gelmann, D Levens
1Medicine Branch, National Cancer Institute, Bethesda, MD 20892.
Abstract:
A 20-base pair region in the first intron of the human c-myc gene was identified as the binding site of a nuclear protein. This binding site is mutated in five out of seven Burkitt lymphomas sequenced to date. To investigate the protein-recognition region in greater detail, the abnormal c-myc allele from a Burkitt lymphoma line (PA682) that carries a t(8;22) chromosomal translocation was used. A point mutation in the binding region of the PA682 c-myc DNA abolished binding of this nuclear protein. This protein may be an important factor for control of c-myc expression, and mutations in its recognition sequence may be associated with c-myc activation in many cases of Burkitt lymphoma.
Insights
A nuclear protein binds to a critical region in the human c-myc gene. Mutations in this binding site are common in Burkitt lymphoma and may cause c-myc gene activation.
Area of Science:
- Molecular Biology
- Cancer Genetics
- Gene Regulation
Background:
- The c-myc gene is a proto-oncogene crucial for cell growth and differentiation.
- Dysregulation of c-myc expression is implicated in various cancers, including Burkitt lymphoma.
- Specific DNA-binding proteins play a role in controlling c-myc gene expression.
Purpose of the Study:
- To investigate the nuclear protein binding site within the human c-myc gene's first intron.
- To determine the significance of mutations within this binding site in Burkitt lymphoma.
- To elucidate the role of this nuclear protein in c-myc gene regulation.
Main Methods:
- Identification of a 20-base pair nuclear protein binding site in the first intron of the human c-myc gene.
- Sequencing of the c-myc allele from a Burkitt lymphoma cell line (PA682) with a t(8;22) translocation.
- Analysis of a specific point mutation within the binding region of the PA682 c-myc DNA.
Main Results:
- A 20-base pair region in the human c-myc first intron was identified as a nuclear protein binding site.
- Mutations in this binding site were found in five out of seven Burkitt lymphomas analyzed.
- A point mutation in the PA682 c-myc DNA binding region abolished nuclear protein binding.
Conclusions:
- The identified nuclear protein may be a key regulator of c-myc gene expression.
- Mutations in the protein's recognition sequence are potentially associated with c-myc activation in Burkitt lymphoma.
- Further research into this protein-DNA interaction could reveal therapeutic targets for Burkitt lymphoma.