Mutations in the first exon are associated with altered transcription of c-myc in Burkitt lymphoma.
The c-myc proto-oncogene is involved in chromosomal translocations that are specifically and consistently found in Burkitt lymphoma. Although these translocations are thought to lead to a deregulation of c-myc expression, the structural and functional basis of this phenomenon has not been identified. Mutations in a specific region spanning approximately 70 base pairs and located at the 3' border of the first exon of translocated c-myc alleles were consistently detected in Burkitt lymphoma cells carrying classic (8:14) as well as variant (8:22 and 2:8) translocations. These structural alterations were accompanied by an altered pattern of c-myc transcription, namely, the removal of a block to transcriptional elongation that has been mapped to the same region. Thus, specific c-myc mutations leading to the alleviation of this block to transcriptional elongation may represent a general mechanism causing c-myc activation in Burkitt lymphoma.
Cesarman
E
E
Department of Pathology, New York University School of Medicine, NY 10016.
Dalla-Favera
R
R
Bentley
D
D
Groudine
M
M
D002051:Burkitt Lymphoma / Q000235:genetics*; D002460:Cell Line; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D005091:Exons; D006801:Humans; D009154:Mutation; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes; D014158:Transcription, Genetic; D014178:Translocation, Genetic