title: Structure and expression of the human MTG8/ETO gene.
abstract: Translocations involving the putative proto-oncogene MTG8/ETO on 8q22 are frequently found in acute myeloid leukemia. To date, little is known of the genomic organization of this gene. Here, we report that the MTG8 gene consists of 13 exons distributed over 87 kb of genomic DNA. Two polymorphic microsatellite repeats are described, including one in intron 3 (three alleles; heterozygosity 0.34) and another in the 3'UTR (15 alleles; heterozygosity 0.89). Expression of MTG8 was detected in a variety of normal human tissues with the highest mRNA levels occurring in brain and heart. Previously, two mRNA forms produced by the alternative usage of the first exon have been reported. We now describe a novel, abundantly expressed, alternatively spliced transcript resulting from the inclusion of a 155-bp exon (designated 9a) that changes the reading frame and introduces a premature stop codon. Identical alternatively spliced mRNA variants were found to be produced by the highly conserved homologous gene (Cbfa2t1) in the mouse, suggesting an evolutionary significance.
authors.affiliation: Phoenix Epidemiology and Clinical Research Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, AZ 85016, USA. jwolford@phx.niddk.nih.gov
authors.forename: J K
authors.initials: JK
authors.lastname: Wolford
authors.forename: M
authors.initials: M
authors.lastname: Prochazka
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D007438:Introns; D051379:Mice; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000737:chemistry / Q000235:genetics*; D011519:Proto-Oncogenes; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D000075142:RUNX1 Translocation Partner 1 Protein; D014018:Tissue Distribution; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D012333:RNA, Messenger; D000075142:RUNX1 Translocation Partner 1 Protein; C082222:RUNX1T1 protein, human; D014157:Transcription Factors