Cloning of ELL, a gene that fuses to MLL in a t(11; 19)(q23; p13. 1) in acute myeloid leukemia

Journal Article · Tue Dec 06 04:00:00 EST 1994 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.91.25.12110· OSTI ID:6609250

Thirman, M J; Levitan, D A; Kobayashi, H; Simon, M C; Rowley, J D ^[1]

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1. Univ. of Chicago Medical Center, IL (United States)

To characterize the functions of MLL fusion transcripts, we cloned the gene that fuses to MLL in the translocation t(11;19)(q23;p13.1). This translocation is distinct from another type of 11;19 translocation with a 19p13.3 breakpoint that results in the fusion of MLL to the ENL gene. By PCR screening of a cDNA library prepared from a patient's leukemia cells with this translocation, we obtained a fusion transcript containing exon 7 of MLL and sequence of an unknown gene. The sequence of this gene was amplified and used as a probe to screen a fetal brain cDNA library. On Northern blot analysis, this cDNA detected a 4.4-kb transcript that was abundant in peripheral blood leukocytes, skeletal muscle, placenta, and testis and expressed at lower levels in spleen, thymus, heart, brain, lung, kidney, liver, and ovary. In addition, a 2.8-kb transcript was present in peripheral blood, testis, and placenta. On [open quotes]zoo blots,[close quotes] this gene was shown to be evolutionarily conserved in 10 mammalian species as well as in chicken, frog, and fish. We have named this gene ELL (for eleven-nineteen lysine-rich leukemia gene). A highly basic, lysine-rich motif of the predicted ELL protein is homologous to similar regions of several proteins, including the DNA-binding domain of poly(ADP-ribose) polymerase. The characterization of the normal functions of ELL as well as its altered function when fused to MLL will be critical to further our understanding of the mechanisms of leukemogenesis. 30 refs., 7 figs.

• OSTI ID: 6609250
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 91:25; ISSN PNASA6; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550400 -- Genetics
550900* -- Pathology
59 BASIC BIOLOGICAL SCIENCES
CARCINOGENESIS
CONTROL
DISEASES
GENETIC CONTROL
IMMUNE SYSTEM DISEASES
LEUKEMIA
LEUKEMOGENESIS
MYELOID LEUKEMIA
NEOPLASMS
PATHOGENESIS
PEST CONTROL