The t(14;18) Chromosome Translocations Involved in B-Cell Neoplasms Result from Mistakes in VDJ Joining

American Association for the Advancement of Science (AAAS) - Tập 229 Số 4720 - Trang 1390-1393 - 1985
Yoshihide Tsujimoto1, James D. Gorham1, Jeffrey Cossman2, Elaine S. Jaffe2, Carlo M. Croce3,1
1Wistar Institute, Philadelphia, Pennsylvania 19104
2Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland, 20205
3Department of Human Genetics, University of Pennsylvania, School of Medicine, Philadelphia 19104.

Tóm tắt

In this study, the joining sequences between chromosomes 14 and 18 on the 14q + chromosomes of a patient with pre-B-cell leukemia and four patients with follicular lymphoma carrying a t(14;18) chromosome translocation were analyzed. In each case, the involved segment of chromosome 18 has recombined with the immunoglobulin heavy-chain joining segment (J H ) on chromosome 14. The sites of the recombination on chromosome 14 are located close to the 5′ end of the involved J H segment, where the diversity (D) regions are rearranged with the J H segments in the production of active heavy-chain genes. As extraneous nucleotides (N regions) were observed at joining sites and specific signal-like sequences were detected on chromosome 18 in close proximity to the breakpoints, it is concluded that the t(14;18) chromosome translocation is the result of a mistake during the process of VDJ joining at the pre-B-cell stage of differentiation. The putative recombinase joins separated DNA segments on two different chromosomes instead of joining separated segments on the same chromosome, causing a t(14;18) chromosome translocation in the involved B cells.

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American Association for the Advancement of Science (AAAS)

Tập 229 Số 4720

1390-1393

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