title: Assignment of a novel bifurcated SET domain gene, SETDB1, to human chromosome band 1q21 by in situ hybridization and radiation hybrids.
abstract: We have identified a human gene encoding an unusual bifurcated SET domain protein containing a large "insertion" between the most highly conserved parts of the SET domain. The existence of an evolutionarily related C. elegans gene encoding a similarly bifurcated SET domain suggests that SET domains may generally be composed of two functionally distinct subdomains. We mapped this gene, called SETDB1, to human chromosome 1q21. This region is targeted by a large number of recurrent translocations, suggesting that like the SET domain protein MLL, mutant forms of SETDB1 may be associated with human neoplasias.
authors.affiliation: Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106-4955, USA.
authors.forename: P J
authors.initials: PJ
authors.lastname: Harte
authors.forename: W
authors.initials: W
authors.lastname: Wu
authors.forename: M M
authors.initials: MM
authors.lastname: Carrasquillo
authors.forename: A G
authors.initials: AG
authors.lastname: Matera
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017173:Caenorhabditis elegans / Q000235:genetics; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D017238:Genes, Helminth; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein; D009857:Oncogenes; D011506:Proteins / Q000235:genetics; D011519:Proto-Oncogenes; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D011506:Proteins; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase