title: Genomic organization of a potential human DNA-crosslink repair gene, KIAA0086.
abstract: In the present study, we describe the genomic structure of the KIAA0086 gene and the 5'-flanking sequence. The analysis is based on the alignment of the KIAA0086 cDNA and a corresponding genomic BAC sequence which was identified in a basic BLAST similarity search using the cDNA sequence as a template. The gene contains nine exons spanning approximately 20 kb. All splice sites conform to the GT-AG rule. Analysis of the upstream untranscribed region identified one GC box but no TATA box, suggesting that the KIAA0086 gene is a housekeeping gene. The promoter region contains putative recognition sites for several transcription factors, e.g., AP1, Sp1 and NFkappaB. The homology of the KIAA0086 gene to the yeast SNM1 gene, which is involved in the cellular response to DNA-interstrand crosslinks, is discussed with respect to a possible role of the KIAA0086 gene in the human disorder, Fanconi anemia.
authors.affiliation: Institute of Human Genetics, Charité, Campus Virchow Klinikum, Humboldt University, Berlin, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Demuth
authors.forename: M
authors.initials: M
authors.lastname: Digweed
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D003432:Cross-Linking Reagents; D004260:DNA Repair / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics*; D004706:Endodeoxyribonucleases; D005090:Exodeoxyribonucleases; D005091:Exons; D005199:Fanconi Anemia / Q000235:genetics; D005656:Fungal Proteins / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D011401:Promoter Regions, Genetic; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D018797:Cell Cycle Proteins; D003432:Cross-Linking Reagents; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D005656:Fungal Proteins; D009687:Nuclear Proteins; D029701:Saccharomyces cerevisiae Proteins; D014157:Transcription Factors; C115339:DCLRE1A protein, human; D004706:Endodeoxyribonucleases; D005090:Exodeoxyribonucleases; C090162:PSO2 protein, S cerevisiae