Demuth I, Digweed M
Institute of Human Genetics, Charité, Campus Virchow Klinikum, Humboldt University, Berlin, Germany.
Mutat Res. 1998 Oct 21;409(1):11-6. doi: 10.1016/s0921-8777(98)00037-8.
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.