Cloning and characterization of ASH2L and Ash2l, human and mouse homologs of the Drosophila ash2 gene.
Drosophila ash2 belongs to the trithorax (trx) gene family. The ash2 product positively regulates expression of homeotic selector genes, and is implicated in early development and formation of various disc patterns in the fruit fly. Through large-scale sequencing of human genomic DNA coupled with in silico gene trapping, we identified a gene (ASH2L) on chromosome 8p11.2 whose predicted product was highly homologous to ash2, characterized it, and identified its mouse counterpart. The human ash2 cDNA is 2368 bp long, encoding 628 amino acids. The 16-exon gene spans more than 34 kb of genomic DNA between STS markers WI-9207 (centromere) and AFMA295ZD5 (telomere) on chromosome 8, with transcription oriented telomere to centromere. The ash2 genes are highly conserved among different species, including C. elegans and yeast. The presence of a conserved bipartite nuclear localization signal and a PHD finger motif in the human ash2 gene suggests that the gene product would function as a transcriptional regulator in humans, as its homologue does in Drosophila.
Laboratory of Genome Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Minato-ku, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp
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Ikegawa
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Isomura
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Koshizuka
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Nakamura
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002503:Centromere / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003001:Cloning, Molecular; D017124:Conserved Sequence; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D029721:Drosophila Proteins; D004331:Drosophila melanogaster / Q000235:genetics; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D015870:Gene Expression; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D019913:Nuclear Localization Signals; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D020161:Physical Chromosome Mapping; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D016324:Sequence Tagged Sites; D016615:Telomere / Q000235:genetics; D014157:Transcription Factors; D016335:Zinc Fingers
C485622:ASH2L protein, human; C120115:Ash2l protein, mouse; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D019913:Nuclear Localization Signals; D009687:Nuclear Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; C103604:ash2 protein, Drosophila