title: Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
abstract: Argininosuccinic aciduria, an autosomal recessive disorder of the urea cycle in humans, is associated with a deficiency of argininosuccinate lyase (ASL; L-argininosuccinate arginine-lyase, EC 4.3.2.1). ASL activity was visualized on gels after electrophoresis by a new method, termed bioautography. Bioautography involves the use of mutant bacteria to visualize the location of mammalian enzymes after zone electrophoresis. By this technique, human ASL migrated to a position different from mouse ASL, while a survey of mouse strains, tissues, and tissue culture cell extracts demonstrated the same electrophoretic form and no genetic variants of mouse ASL. Identifying human ASL, by bioautography in human-mouse somatic cell hybrids has made it possible to regionally locate the ASL gene on human chromosome 7. The human ASL phenotype segregated concordantly with the human enzyme beta-glucoronidase (GUS; beta-D-glucoronide glucuronosohydrolase, EC 3.2.1.31) in cell hybrids, but showed discordant segregation with 32 other enzyme markers representing 23 linkage groups. The gene for GUS has been assigned to chromosome 7 in humans, and cosegregation (synteny) of ASL and GUS demonstrates the assignment of ASL to chromosome 7. Regional location of ASL and GUS to the pter to q22 region of chromosome 7 was achieved in hybrids segregating a 7/9 translocation.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001120:Arginine / Q000031:analogs & derivatives*; D001123:Argininosuccinate Lyase / Q000032:analysis / Q000235:genetics*; D001125:Argininosuccinic Acid / Q000652:urine*; D056807:Argininosuccinic Aciduria; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004586:Electrophoresis / Q000379:methods; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D008190:Lyases / Q000235:genetics*
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine; D008190:Lyases; D001123:Argininosuccinate Lyase