Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells.

Taub, Rebecca; Kirsch, Ilan R.; Morton, Cynthia C.; Lenoir, Gilbert; Swan, David C.; Tronick, Steven R.; Aaronson, Stuart A.; Leder, Philip

doi:10.1073/pnas.79.24.7837

Cited by 1,214 publications

(579 citation statements)

References 33 publications

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“…At the molecular genetic level, such translocation analysed in the greatest detail comprise those associated with Burkitt's lymphoma (BL) and FL, wherein the expression of MYC and BCL2 genes, respectively, is deregulated as a result of translocations which juxtapose these genes with one of the IG loci (Dalla-Favera et al, 1982;Taub et al, 1982;Bakhshi et al, 1985). In contrast, translocations a ecting BCL6 are promiscuous and involve multiple gene partners, in addition to the IG genes.…”

Section: Discussionmentioning

confidence: 99%

The t(2;3)(q21;q27) translocation in non-Hodgkin's lymphoma displays BCL6 mutations in the 5′ regulatory region and chromosomal breakpoints distant from the gene

et al. 1998

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The BCL6 gene, mapped at the chromosomal band 3q27, encodes a POZ/Zinc ®nger transcription repressor protein. It is frequently activated in Non-Hodgkin's lymphomas (NHL) by translocations with breakpoints clustering in the 5' major breakpoint region (MBR) as well as by mutations in the same region. The translocations lead to BCL6 activation by substitution of promoters of rearranging genes derived from the reciprocal chromosomal partners such as IG. We report the molecular genetic analysis of a novel t(2;3)(q21;q27) translocation subset in NHL comprising three cases without apparent BCL6 involvement in the translocation. Southern blot analysis of tumor DNAs utilizing BCL6 MBR probes revealed no rearrangement in two cases. Two rearranged bands in the third case resulted from a deletion in one allele and a mutation in the other allele. Southern blot analysis of DNA from one of the two tumors without BCL6 rearrangement, using a probe derived from the recently identi®ed alternative breakpoint region (ABR), showed a rearrangement. The ABR is located 200 ± 270 kb telomeric to MBR. Mutations were identi®ed in the previously reported hypermutable region of BCL6 in all three tumors. In one, the mutant allele alone was found to be expressed by RT ± PCR analysis of RNA. These results demonstrate the presence of 3q27 translocation breakpoints at a distance from BCL6 suggesting distant breaks that deregulate the gene or involvement of other genes that may be subject to rearrangement.

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Section: Discussionmentioning

confidence: 99%

The t(2;3)(q21;q27) translocation in non-Hodgkin's lymphoma displays BCL6 mutations in the 5′ regulatory region and chromosomal breakpoints distant from the gene

et al. 1998

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“…Traditionally, genome-wide discovery efforts were performed using FISH or array-based methods, leading to the identification of translocations, for example, those common to Chronic Myelogenous Leukemia (CML) and Burkitt’s lymphoma[98, 99]. These assays were limited to analyzing large translocations or copy number changes.…”

Section: Mps Applications In Mutation Analysismentioning

confidence: 99%

Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants

Gundry

Vijg

2012

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

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DNA mutations are the source of genetic variation within populations. The majority of mutations with observable effects are deleterious. In humans mutations in the germ line can cause genetic disease. In somatic cells multiple rounds of mutations and selection lead to cancer. The study of genetic variation has progressed rapidly since the completion of the draft sequence of the human genome. Recent advances in sequencing technology, most importantly the introduction of massively parallel sequencing (MPS), have resulted in more than a hundred-fold reduction in the time and cost required for sequencing nucleic acids. These improvements have greatly expanded the use of sequencing as a practical tool for mutation analysis. While in the past the high cost of sequencing limited mutation analysis to selectable markers or small forward mutation targets assumed to be representative for the genome overall, current platforms allow whole genome sequencing for less than $5,000. This has already given rise to direct estimates of germline mutation rates in multiple organisms including humans by comparing whole genome sequences between parents and offspring. Here we present a brief history of the field of mutation research, with a focus on classical tools for the measurement of mutation rates. We then review MPS, how it is currently applied and the new insight into human and animal mutation frequencies and spectra that has been obtained from whole genome sequencing. While great progress has been made, we note that the single most important limitation of current MPS approaches for mutation analysis is the inability to address low-abundance mutations that turn somatic tissues into mosaics of cells. Such mutations are at the basis of intra-tumor heterogeneity, with important implications for clinical diagnosis, and could also contribute to somatic diseases other than cancer, including aging. Some possible approaches to gain access to low-abundance mutations are discussed, with a brief overview of new sequencing platforms that are currently waiting in the wings to advance this exploding field even further.

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“…Mutations of the gene and alterations in its expression are implicated in several malignancies, including Acute Myelogenous Luekemia and pre-leukemia (Reddy and Sulcova, 1997). Translocations involving c-myc are implicated in Burkitt's Lymphoma (Dalla-Favera et al, 1982;Taub et al, 1982;Ar-Rushdi et al, 1983) and altered translation of c-myc may be involved in the genesis of Bloom's Syndrome (West et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

Differential expression of Myc1 and Myc2 isoforms in cells transformed by eIF4E: evidence for internal ribosome repositioning in the human c-myc 5′UTR

1999

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Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells.

Cited by 1,214 publications

References 33 publications

The t(2;3)(q21;q27) translocation in non-Hodgkin's lymphoma displays BCL6 mutations in the 5′ regulatory region and chromosomal breakpoints distant from the gene

The t(2;3)(q21;q27) translocation in non-Hodgkin's lymphoma displays BCL6 mutations in the 5′ regulatory region and chromosomal breakpoints distant from the gene

Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants

Differential expression of Myc1 and Myc2 isoforms in cells transformed by eIF4E: evidence for internal ribosome repositioning in the human c-myc 5′UTR

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