title: Allele-specific variation in the gene copy number of human cytosine 5-methyltransferase.
abstract: Previously, we have identified two alternate allelic forms of cytosine 5-methyltransferase, 5-MT I and 5-MT II, specified by polymorphic fragments of 1.5 and 1.1 kb, respectively. In the presence study, a 0.8-kb genomic probe was prepared which was confirmed to be included within the polymorphic fragments. The 0. 8-kb probe hybridised with greater intensity to the 1.1-kb fragment than the 1.5-kb fragment. Densitometric analysis indicated that there is 1 copy of 5-MT associated with 5-MT I, whereas there may be 1-4 copies of the gene associated with the 5-MT II allele. Segregation studies demonstrated that the multiple copies of 5-MT II are inherited in a Mendelian fashion. These results allow novel approaches to investigating the underlying mechanisms of cytosine methylation and gene duplication.
authors.affiliation: Department of Pathology, University of Western Australia, Perth, Australia.
authors.forename: M
authors.initials: M
authors.lastname: Franchina
authors.forename: P H
authors.initials: PH
authors.lastname: Kay
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D003720:Densitometry; D005260:Female; D018628:Gene Dosage; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: D004248:DNA (Cytosine-5-)-Methyltransferases