title: Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
abstract: Lysosomal beta-hexosaminidase (EC 3.2.1.52) is composed of two structurally similar chains, alpha and beta, that are the products of different genes. Mutations in either gene causing beta-hexosaminidase deficiency result in the lysosomal storage disease GM2-gangliosidosis. To enable the investigation of the molecular lesions in this disorder and to study the evolutionary relationship between the alpha and beta chains, the beta-chain gene was isolated, and its organization was characterized. The beta-chain coding region is divided into 14 exons distributed over approximately 40 kilobases of DNA. Comparison with the alpha-chain gene revealed that 12 of the 13 introns interrupt the coding regions at homologous positions. This extensive sharing of intron placement demonstrates that the alpha and beta chains evolved by way of the duplication of a common ancestor.
authors.affiliation: Genetics and Biochemistry Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892.
authors.forename: R L
authors.initials: RL
authors.lastname: Proia
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D006801:Humans; D007438:Introns; D046911:Macromolecular Substances; D008969:Molecular Sequence Data; D009154:Mutation; D012497:Sandhoff Disease / Q000201:enzymology; D013661:Tay-Sachs Disease / Q000201:enzymology; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D046911:Macromolecular Substances; D001619:beta-N-Acetylhexosaminidases