Characterization and chromosomal localization of the human proto-oncogene BMI-1

• Published in: Human molecular genetics Vol. 2; no. 10; p. 1597
• Main Authors: Alkema, M J, Wiegant, J, Raap, A K, Berns, A, van Lohuizen, M
• Format: Journal Article
• Language: English
• Published: England 01.10.1993
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Burkitt Lymphoma - pathology; Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 10; Cloning, Molecular; DNA, Complementary - genetics; DNA-Binding Proteins; Drosophila melanogaster - genetics; Drosophila Proteins; Genes; Genes, Insect; Humans; In Situ Hybridization, Fluorescence; Leukemia, Erythroblastic, Acute - pathology; Mice; Mice, Transgenic; Molecular Sequence Data; Nuclear Proteins - genetics; Phylogeny; Polycomb Repressive Complex 1; Proteins - genetics; Proto-Oncogene Proteins - genetics; Proto-Oncogenes; Repressor Proteins; Sequence Alignment; Sequence Homology, Amino Acid; Translocation, Genetic
• ISSN: 0964-6906
• DOI: 10.1093/hmg/2.10.1597

The proto-oncogene bmi-1 is frequently activated by Moloney murine leukemia proviral insertions in E mu-myc transgenic mice1,2. Using a mouse bmi-1 cDNA probe a transcript of 3.3 kb was detected on Northern blots of human Burkitt's lymphoma cell lines. We have isolated and sequenced cDNA clones from a human erythroleukemia cell line (K562) derived cDNA library, using different mouse bmi-1 cDNA fragments as a probe. Analysis of genomic BMI-1 sequences reveals a gene structure which is very similar to that of the mouse, consisting of at least 10 exons. The human cDNA is 3203 bp in length and shows 86% identity to the mouse nucleotide sequence. The open reading frame encodes a protein of 326 amino acids which shares 98% identity to the amino acid sequence of mouse bmi-1 protein. In vitro translation experiments show that human cDNA derived RNA translates into a protein with a mobility of 44-46 kD on SDS polyacrylamide gels. Fluorescence in situ hybridization (FISH) on metaphase chromosome spreads located the human BMI-1 gene to the short arm of chromosome 10 (10p13), a region known to be involved in translocations in various leukemias.