The 3; 21 translocation in myelodysplasia results in a fusion transcript between the AML1 gene and the gene for EAP, a highly conserved protein associated with the Epstein-Barr virus small RNA EBER 1

Journal Article · Sun Aug 15 00:00:00 EDT 1993 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.90.16.7784· OSTI ID:5135358

Nucifora, G; Begy, C R; Rowley, J D ^[1]; Erickson, P; Drabkin, H A ^[2]

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1. Univ. of Chicago, IL (United States)
2. Univ. of Colorado Health Sciences Center, Denver, CO (United States)

In the 8;21 translocation, the AML1 gene, located at chromosome band 21q22, is translocated to chromosome 8 (q22), where it is fused to the ETO gene and transcribed as a chimeric gene. AML1 is the human homolog of the recently cloned mouse gene pebp2[alpha]B, homologous to the DNA binding [alpha] subunit of the polyoma enhancer factor pebp2. AML1 is also involved in a translocation with chromosome 3 that is seen in patients with therapy-related acute myeloid leukemia and myelodysplastic syndrome and in chronic myelogenous leukemia in blast crisis. The authors have isolated a fusion cDNA clone from a t(3;21) library derived from a patient with therapy-related myelodysplastic syndrome; this clone contains sequences from AML1 and from EAP, which have now been localized to ban 3q26. EAP has previously been characterized as a highly expressed small nuclear protein of 128 residues (EBER 1) associated with Epstein-Barr virus small RNA. The fusion clone contains the DNA binding 5[prime] part of AML1 that is fused to ETO in the t(8;21) and, in addition, at least one other exon. The translocation replaces the last nine codons of AML1 with the last 96 codons of EAP. The fusion does not maintain the correct reading frame of EAP and may not lead to a functional chimeric protein. 23 refs., 6 figs.

• DOE Contract Number: FG02-86ER60408
• OSTI ID: 5135358
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 90:16; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
BONE MARROW
DISEASES
HUMAN CHROMOSOME 21
TRANSLOCATION
HUMAN CHROMOSOME 3
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
DNA-CLONING
ANIMAL TISSUES
BODY
CHROMOSOMES
CLONING
DNA HYBRIDIZATION
HEMATOPOIETIC SYSTEM
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
ORGANS
STRUCTURAL CHEMICAL ANALYSIS
TISSUES
550400* - Genetics