title: Human uracil-DNA glycosylase gene: sequence organization, methylation pattern, and mapping to chromosome 12q23-q24.1.
abstract: The human uracil-DNA glycosylase gene (UNG) spans approximately 13.5 kb including the promoter. UNG comprises 6 exons and 5 introns and was assigned to chromosome 12q23-q24.1 by radiation hybrid mapping. UNG exhibits typical features of housekeeping genes, including a 5' CpG island of 1.2 kb and a very GC-rich TATA-less promoter containing a number of elements involved in constitutive expression and cell cycle regulation. A smaller CpG island is located just downstream of the gene. Within the 15-kb sequence we identified 16 Alu retroposons, 2 of which contain putative competent RNA polymerase III promoters, 3 copies of medium reiteration frequency repeats, and 1 copy of a mammalian-wide interspersed repetitive element, as well as a 300-bp TA-dinucleotide repeat. In vitro methylation of the UNG promoter strongly reduced promoter activity, but methylation may not be involved in regulation of UNG in vivo since a narrow region of the 5' CpG island comprising the putative transcription factor binding region appears to be invariably methylation-free.
authors.affiliation: UNIGEN Center for Molecular Biology, Medical Faculty, Norwegian University of Science and Technology, Trondheim, Norway.
authors.forename: T
authors.initials: T
authors.lastname: Haug
authors.forename: F
authors.initials: F
authors.lastname: Skorpen
authors.forename: K
authors.initials: K
authors.lastname: Kvaløy
authors.forename: I
authors.initials: I
authors.lastname: Eftedal
authors.forename: H
authors.initials: H
authors.lastname: Lund
authors.forename: H E
authors.initials: HE
authors.lastname: Krokan
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D045647:DNA Glycosylases; D019175:DNA Methylation; D006801:Humans; D008969:Molecular Sequence Data; D009699:N-Glycosyl Hydrolases / Q000235:genetics*; D051981:Uracil-DNA Glycosidase
chemical_list: D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases; D051981:Uracil-DNA Glycosidase