title: Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.
abstract: We have previously reported the isolation of a genomic clone encoding human liver-specific peroxisomal alanine:glyoxylate aminotransferase (AGT, EC 2.6.1.44), the deficient enzyme in primary hyperoxaluria type 1 (PH1) (P. E. Purdue, Y. Takada, and C. J. Danpure, J. Cell Biol. 111: 2341-2351, 1990). This clone has now been characterized, revealing that the coding sequence is distributed among 11 exons covering 10 kb. The nucleotide sequences of each exon have been determined, confirming that this clone corresponds to previously characterized AGT cDNA (Y. Takada, N. Kaneko, H. Esumi, P. E. Purdue, and C. J. Danpure, Biochem. J. 268: 517-520, 1990). In addition, to provide sequence data for the design of exon-specific PCR primers, the intron sequences immediately flanking each exon have been determined. Furthermore, in an attempt to identify putative transcriptional control sequences we have determined the sequence of 1.25 kb directly upstream of the cDNA 5' end. The results of genomic Southern blotting indicate that human AGT is probably encoded by a single copy gene, and a combination of in situ hybridization and PCR analysis of rodent/human somatic cell hybrids suggests that this gene is located on chromosome 2q36-q37. The gene symbol AGXT has been assigned for this locus.
authors.affiliation: Biochemical Genetics Research Group, Clinical Research Centre, Harrow, Middlesex, United Kingdom.
authors.forename: P E
authors.initials: PE
authors.lastname: Purdue
authors.forename: M J
authors.initials: MJ
authors.lastname: Lumb
authors.forename: M
authors.initials: M
authors.lastname: Fox
authors.forename: G
authors.initials: G
authors.lastname: Griffo
authors.forename: C
authors.initials: C
authors.lastname: Hamon-Benais
authors.forename: S
authors.initials: S
authors.lastname: Povey
authors.forename: C J
authors.initials: CJ
authors.lastname: Danpure
mesh_terms: D000410:Alanine Transaminase / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D015139:Blotting, Southern; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D004247:DNA; D005091:Exons; D006801:Humans; D006822:Hybrid Cells; D007438:Introns; D008969:Molecular Sequence Data; D009841:Oligonucleotides; D016133:Polymerase Chain Reaction; D000637:Transaminases
chemical_list: D009841:Oligonucleotides; D004247:DNA; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase