title: Genomic structure and expression of the mouse ESET gene encoding an ERG-associated histone methyltransferase with a SET domain.
abstract: ESET (ERG-associated protein with a SET domain, also called SETDB1) is a novel histone methyltransferase that catalyzes methylation of histone H3-lysine 9 (H3-K9). Here we describe the genomic structure and expression of the mouse ESET gene that gives rise to ESET protein and its alternative splicing product. ESET is a 36-kb single copy gene and full-length ESET transcript consisting of 22 exons. The splicing variant retains only the first 12 exons and thus lacks sequences encoding the methyl CpG-binding domain and the catalytic SET domain. The U2 type conserved GT/AG consensus sequence is present at all of the splicing junctions within the ESET gene. The transcription initiation site of the ESET gene was determined by 5'-RACE experiment and by primer extension. The 5'-flanking sequence of the ESET gene does not contain the consensus TATA box. Instead, this ESET promoter region has features such as SP1-binding sites that are typical of housekeeping genes. The ESET promoter was functionally active when tested in transfection and luciferase assay. Full-length ESET transcript appears to be ubiquitously expressed. While the SET domain-deficient splicing variant is present in immortalized cell lines, it is undetectable by RT-PCR in the majority of normal mouse tissues.
authors.affiliation: Department of Orthopedics and Sports Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Blackburn
authors.forename: Howard A
authors.initials: HA
authors.lastname: Chansky
authors.forename: Anna
authors.initials: A
authors.lastname: Zielinska-Kwiatkowska
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Matsui
authors.forename: Liu
authors.initials: L
authors.lastname: Yang
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D017124:Conserved Sequence; D015870:Gene Expression; D005796:Genes; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D008780:Methyltransferases / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D011496:Protein Methyltransferases; D024363:Transcription Initiation Site
chemical_list: D000076983:Histone Methyltransferases; D008780:Methyltransferases; D011496:Protein Methyltransferases; D011495:Histone-Lysine N-Methyltransferase