title: The gene coding for the alpha-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32.
abstract: The human gene encoding the alpha-polypeptide of propionyl-CoA carboxylase (PCC) has hitherto been localized to the distal half of the long arm of chromosome 13, segment 13q22----q34. We studied the enzyme activities of mitochondrial carboxylases in cell cultures obtained from patients with different deletions of chromosome 13. By setting the PCC activity in normal diploid cell cultures (control group) at 100%, cell cultures with trisomy 13 showed 150% activity. In contrast, one of four patients with partial monosomy 13 had an enzyme activity of only 50%. Thus, by comparative deletion mapping, combined with studies of the gene-dosage effect, we have been able to assign the PCCA gene locus to chromosome band 13q32.
authors: Abteilung Klinische Genetik der Universität, Ulm, Federal Republic of Germany.
authors: I
authors: I
authors: Kennerknecht
authors: T
authors: T
authors: Suormala
authors: G
authors: G
authors: Barbi
authors: E R
authors: ER
authors: Baumgartner
mesh_terms: D019735:Carbon-Carbon Ligases; D002478:Cells, Cultured; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D006801:Humans; D007621:Karyotyping; D008025:Ligases / Q000235:genetics*
chemical_list: D008025:Ligases; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing)