Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints.
Publication/Presentation Date
12-1-1999
Abstract
BACKGROUND: AF-4 is a common partner gene of MLL. AF-4 breakpoints occur in introns, but most AF-4 introns are uncharacterized.
METHODS AND RESULTS: We cloned AF-4 intron 4 and examined the frequency of breakpoints in this intron. The 5.8-kb intron is rich in repeat sequences and was the site of translocation in 3 of 17 leukemias with t(4;11). We cloned the der (11) and der (4) breakpoints and isolated the fusion transcripts in the cell line MV4-11 and in a de novo acute lymphoblastic leukemia (ALL). Both translocations joined MLL intron 6 and AF-4 intron 4. In MV4-11, 249 bases from AF-4 were present in both derivative chromosomes, indicating duplication. In the de novo ALL, duplication of 446 bases from MLL and AF-4 occurred. Reciprocal fusion transcripts were expressed.
CONCLUSIONS: Intronic sequence of AF-4 is useful for molecular diagnosis of t(4;11). Duplicated intronic regions suggest staggered chromosomal breakage.
Volume
4
Issue
4
First Page
269
Last Page
283
ISSN
1084-8592
Published In/Presented At
Felix, C. A., Hosler, M. R., Slater, D. J., Megonigal, M. D., Lovett, B. D., Williams, T. M., Nowell, P. C., Spinner, N. B., Owens, N. L., Hoxie, J., Croce, C. M., Lange, B. J., & Rappaport, E. F. (1999). Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 4(4), 269–283. https://doi.org/10.1016/s1084-8592(99)80002-2
Disciplines
Medicine and Health Sciences
PubMedID
10671636
Department(s)
Department of Emergency Medicine
Document Type
Article