title: Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
abstract: This study reports the first demonstration of specific mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency. The molecular basis of the deficiency was investigated by determining the sequence of both alleles of a patient with a complete deficiency in APRT activity. A trinucleotide deletion, corresponding to phenylalanine on the deduced amino acid sequence, was confirmed on one allele. A single nucleotide insertion, immediately adjacent to the splice site at the 5' end of the fourth intervening sequence, was confirmed on the other allele. This insertion lead to aberrant splicing, as was demonstrated by the absence of exon 4 in the complementary DNA sequence and by altered RNase mapping analysis of the abnormal messenger RNA.
authors: Department of Internal Medicine, University of Michigan Medical School, Ann Arbor 48109.
authors: Y
authors: Y
authors: Hidaka
authors: T D
authors: TD
authors: Palella
authors: T E
authors: TE
authors: O'Toole
authors: S A
authors: SA
authors: Tarlé
authors: W N
authors: WN
authors: Kelley
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010430:Pentosyltransferases / Q000172:deficiency*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D004247:DNA; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase