Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations

Journal Article · Tue Apr 26 04:00:00 EDT 1994 · Proceedings of the National Academy of Sciences of the United States of America

DOI:https://doi.org/10.1073/pnas.91.9.4004· OSTI ID:86510

Nucifora, G; Begy, C R; Kobayashi, H; Roulston, D; Rowley, J D ^[1]; Claxton, D ^[2]; Pedersen-Bjergaard, J ^[3]; Parganas, E; Ihle, J N ^[4]

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1. Univ. of Chicago, IL (United States)
2. Univ. of Texas, Houston, TX (United States)
3. Dept. of Hematology, Copenhagen (Denmark)
4. St. Jude Children`s Research Hospital, Memphis, TN (United States)

Two genes have been implicated in leukemias of patients with abnormalities of chromosome 3, band q26: EVI1, which can be activated over long distances by chromosomal rearrangements involving 3q26, and EAP, a ribosomal gene that fuses with AML1 in a therapy-related myelodysplasia patient with a t(3;21)(q26.2;q22). AML1 was identified by its involvement in the t(8;21)(q22;q22) of acute myeloid leukemia. Here the authors report the consistent identification of fusion transcripts between AML1 and EAP or between AML1 and previously unidentified sequences that was named MDS1 (MDS)-associated sequences in the leukemic cells of four patients with therapy-related myelodysplasia/acute myeloid leukemia and in one patient with chronic myelogenous leukemia in blast crisis, all of whom had a t(3;21). In addition, they have identified a third chimeric transcript, AML1/EVI1, in one of the therapy-related acute myeloid leukemia patients. Pulsed-field gel electrophoresis established the order of the genes as EAP, the most telomeric, and EVI1, the most centromeric, gene. The results indicate that translocations could involve multiple genes and affect gene expression over long distances.

• Sponsoring Organization: USDOE
• DOE Contract Number: FG02-86ER60408
• OSTI ID: 86510
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America, Journal Name: Proceedings of the National Academy of Sciences of the United States of America Journal Issue: 9 Vol. 91; ISSN PNASA6; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
DNA-CLONING
ETIOLOGY
GENE RECOMBINATION
HUMAN CHROMOSOME 22
HUMAN CHROMOSOME 3
LEUKEMIA