GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA).
The structural gene (beta GALA) coding for lysosomal beta-galactosidase-A (EC 3.2.1.23) has been assigned to human chromosome 3 using man--mouse somatic cell hybrids. Human beta-galactosidase-A was identified in cell hybrids with a species-specific antiserum to human liver beta-galactosidase-A. The antiserum precipitates beta-galactosidase-A from human tissues, cultured cells, and cell hybrids, and recognizes cross-reacting material from a patient with GM1 gangliosidosis. We have analyzed 90 primary man--mouse hybrids derived from 12 separate fusion experiments utilizing cells from 9 individuals. Enzyme segregation analysis excluded all chromosomes for beta GALA assignment except chromosome 3. Concordant segregation of chromosomes and enzymes in 16 cell hybrids demonstrated assignment of beta GALA to chromosome 3; all other chromosomes were excluded. The evidence suggests that GM1 gangliosidosis is a consequence of mutation at this beta GALA locus on chromosome 3.
D000818:Animals; D000906:Antibodies; D000937:Antigen-Antibody Reactions; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D003429:Cross Reactions; D005696:Galactosidases / Q000235:genetics*; D005733:Gangliosidoses / Q000235:genetics; D005796:Genes; D006801:Humans; D006822:Hybrid Cells / Q000502:physiology; D051379:Mice; D001616:beta-Galactosidase / Q000235:genetics* / Q000276:immunology
D000906:Antibodies; D005696:Galactosidases; D001616:beta-Galactosidase