Point mutations in the c–Myc transactivation domain are common in Burkitt's lymphoma and mouse plasmacytomas
Autor: | Siwarski D, Iyer R, Magrath I, Spangler G, Kishor Bhatia, Huppi K |
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Rok vydání: | 1993 |
Předmět: |
Transcriptional Activation
DNA Mutational Analysis Molecular Sequence Data Mutant Genes myc Apoptosis Chromosomal translocation Biology Polymerase Chain Reaction Proto-Oncogene Proteins c-myc Mice Transactivation hemic and lymphatic diseases Tumor Cells Cultured Genetics medicine Animals Humans Point Mutation Amino Acid Sequence Phosphorylation Allele Gene Alleles Genes Dominant Base Sequence Genes Immunoglobulin Sequence Homology Amino Acid Point mutation Wild type DNA Neoplasm medicine.disease Burkitt Lymphoma Molecular biology Gene Expression Regulation Neoplastic Sequence Alignment Burkitt's lymphoma Plasmacytoma |
Zdroj: | Nature Genetics. 5:56-61 |
ISSN: | 1546-1718 1061-4036 |
DOI: | 10.1038/ng0993-56 |
Popis: | We have screened the entire coding region of c-myc in a panel of Burkitt's lymphomas (BLs) and mouse plasmacytomas (PCTs). Contrary to the belief that c-myc is wild type in these tumours, we found that 65% of 57 BLs and 30% of 10 PCTs tested exhibit at least one amino acid (aa) substitution. These mutations were apparently homozygous in all BL cell lines tested and two tumour biopsies, implying that the mutations often occur before Myc/Ig translocation in BL. In PCTs, only the mutant c-myc allele was expressed indicating a functional homozygosity, but occurrence of mutations after the translocation. Many of the observed mutations are clustered in regions associated with transcriptional activation and apoptosis, and in BLs, they frequently occur at sites of phosphorylation, suggesting that the mutations have a pathogenetic role. |
Databáze: | OpenAIRE |
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