Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme

J Biol Chem. 2000 Apr 7;275(14):10035-40. doi: 10.1074/jbc.275.14.10035.

Abstract

Lysosomal beta-D-galactosidase (beta-gal), the enzyme deficient in the autosomal recessive disorders G(M1) gangliosidosis and Morquio B, is synthesized as an 85-kDa precursor that is C-terminally processed into a 64-66-kDa mature form. The released approximately 20-kDa proteolytic fragment was thought to be degraded. We now present evidence that it remains associated to the 64-kDa chain after partial proteolysis of the precursor. This polypeptide was found to copurify with beta-gal and protective protein/cathepsin A from mouse liver and Madin-Darby bovine kidney cells and was immunoprecipitated from human fibroblasts but not from fibroblasts of a G(M1) gangliosidosis and a galactosialidosis patient. Uptake of wild-type protective protein/cathepsin A by galactosialidosis fibroblasts resulted in a significant increase of mature and active beta-gal and its C-terminal fragment. Expression in COS-1 cells of mutant cDNAs encoding either the N-terminal or the C-terminal domain of beta-gal resulted in the synthesis of correctly sized polypeptides without catalytic activity. Only when co-expressed, the two subunits associate and become catalytically active. Our results suggest that the C terminus of beta-gal is an essential domain of the catalytically active enzyme and provide evidence that lysosomal beta-galactosidase is a two-subunit molecule. These data may give new significance to mutations in G(M1) gangliosidosis patients found in the C-terminal part of the molecule.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cattle
  • Cell Line
  • Cells, Cultured
  • Gangliosidosis, GM1 / enzymology
  • Gangliosidosis, GM1 / genetics
  • Humans
  • Kidney
  • Liver / enzymology*
  • Lysosomes / enzymology*
  • Macromolecular Substances
  • Mice
  • Multienzyme Complexes / chemistry
  • Multienzyme Complexes / isolation & purification
  • Mutagenesis
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / metabolism
  • Sequence Deletion
  • Skin / cytology
  • Skin / enzymology
  • Skin / pathology
  • beta-Galactosidase / chemistry
  • beta-Galactosidase / genetics*
  • beta-Galactosidase / metabolism*

Substances

  • Macromolecular Substances
  • Multienzyme Complexes
  • Recombinant Proteins
  • beta-Galactosidase