Structure of the Leukemia-associated human CBFB gene

Journal Article · Mon Apr 10 04:00:00 EDT 1995 · Genomics

DOI:https://doi.org/10.1016/0888-7543(95)80177-N· OSTI ID:209941

Hajra, A ^[1]; Collins, F S ^[1]

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1. National Institutes of Health, Bethesda, MD (United States)

We have determined the structure of the human CBFB gene, which encodes the {beta} subunit of the heterodimeric transcription factor core binding factor (CBF). This gene becomes fused to the MYH11 gene encoding smooth muscle myosin heavy chain by an inversion of chromosome 16 that occurs in the M4Eo subtype of acute myeloid leukemia. The CBFB gene contains 6 exons and spans 50 kb. The gene is highly conserved in animal species as distant as Drosophila, and the exon boundaries are in locations identical to those of the murine Cbfb homologue. The CBFB promoter region has typical features of a housekeeping gene, including high G+C content, high frequency of CpG dinucleotides, and lack of canonical TATA and CCAAT boxes. This gene has a single transcriptional start site, 345 nucleotides upstream of the beginning of the coding region. The human and mouse CBFB promoters show conservation of several transcriptional regulatory sequence motifs, including binding sites for Sp1, Ets family members, and Myc, but do not contain any CBF binding sites. The 5{prime} end of the human CBFB gene also contains a highly polymorphic, transcribed CGG repeat that is not present in the murine homologue. 42 refs., 6 figs., 1 tab.

• OSTI ID: 209941
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 26; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
DNA SEQUENCING
EXONS
GENE MUTATIONS
GENE REGULATION
GENES
HUMAN CHROMOSOME 16
HUMAN CHROMOSOME 22
INTRONS
LEUKEMIA
MUTATION FREQUENCY
NUCLEOTIDES
POLYMERASE CHAIN REACTION
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION