title: Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.
abstract: We have characterized 18 germline and 10 in vivo somatic mutations in the human adenine phosphoribosyltransferase (APRT) gene. Both germline and in vivo somatic mutations were clustered at the intron 4 splice donor site and at codon 87. In vitro somatic mutations in human APRT do not appear to show this clustering. These findings suggest that the spectrum of germline mutations in APRT may be similar to that incurred by somatic cells in vivo, but different from that seen in cultured cells. Thus, in vivo, rather than in vitro, somatic mutations in this gene may be more representative of mutational events occurring in the germline.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202.
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Sahota
authors.forename: G F
authors.initials: GF
authors.lastname: Martin
authors.forename: M
authors.initials: M
authors.lastname: Hakoda
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
authors.forename: P J
authors.initials: PJ
authors.lastname: Stambrook
authors.forename: J A
authors.initials: JA
authors.lastname: Tischfield
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D016466:CHO Cells; D003062:Codon; D006224:Cricetinae; D015894:Genome, Human; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D003062:Codon; D000228:Adenine Phosphoribosyltransferase