title: The identification and localization of a human gene with sequence similarity to Polycomblike of Drosophila melanogaster.
abstract: The Drosophila Polycomb group (PcG) of genes is required for the epigenetic regulation of a number of important developmental genes, including the homeotic (Hox) genes. The members of this gene family encode proteins that do not share sequence similarity, implying that each plays a unique role in this epigenetic repression mechanism. Polycomblike (Pcl) was the second PcG gene to be identified. We report here the isolation and characterization of a human cDNA, termed PHF1, which encodes a protein with significant sequence similarity to Drosophila Polycomblike (PCL). The region of similarity between PHF1 and PCL includes the two PHD fingers (C4-H-C3 motif), the region between them, and sequences C-terminal to the PHD fingers. PHF1 and PCL are 34% identical over this 258-residue region. PHF1 was mapped to 6p21.3 by fluorescence in situ hybridization. While several genetic diseases that are likely to result from developmental abnormalities map to this region, PHF1 is not a clear candidate gene for any of them.
authors.affiliation: Department of Genetics, University of Adelaide, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Coulson
authors.forename: S
authors.initials: S
authors.lastname: Robert
authors.forename: H J
authors.initials: HJ
authors.lastname: Eyre
authors.forename: R
authors.initials: R
authors.lastname: Saint
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002896:Chromosomes, Human, Pair 6; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D004331:Drosophila melanogaster / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D063146:Polycomb-Group Proteins; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors
chemical_list: D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; C112309:PHF1 protein, human; C095065:Pcl protein, Drosophila; D063146:Polycomb-Group Proteins; D011506:Proteins; D012097:Repressor Proteins; D014157:Transcription Factors