title: Characterization and chromosomal localization of the human proto-oncogene BMI-1.
abstract: 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.
authors.affiliation: Division of Molecular Genetics, University of Amsterdam, The Netherlands Cancer Institute.
authors.forename: M J
authors.initials: MJ
authors.lastname: Alkema
authors.forename: J
authors.initials: J
authors.lastname: Wiegant
authors.forename: A K
authors.initials: AK
authors.lastname: Raap
authors.forename: A
authors.initials: A
authors.lastname: Berns
authors.forename: M
authors.initials: M
authors.lastname: van Lohuizen
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002051:Burkitt Lymphoma / Q000473:pathology; D002460:Cell Line; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D004331:Drosophila melanogaster / Q000235:genetics; D005796:Genes; D017344:Genes, Insect; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D004915:Leukemia, Erythroblastic, Acute / Q000473:pathology; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D010802:Phylogeny; D063150:Polycomb Repressive Complex 1; D011506:Proteins / Q000235:genetics; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011519:Proto-Oncogenes; D012097:Repressor Proteins; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014178:Translocation, Genetic
chemical_list: C069077:BMI1 protein, human; C489421:Bmi1 protein, mouse; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D009687:Nuclear Proteins; D011506:Proteins; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins; C071050:Psc protein, Drosophila; D063150:Polycomb Repressive Complex 1