Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

Proc Natl Acad Sci U S A. 1975 Jan;72(1):263-7. doi: 10.1073/pnas.72.1.263.

Abstract

The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Carbohydrate Epimerases / metabolism
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, 4-5*
  • Clone Cells
  • Female
  • Genes*
  • Genetic Linkage*
  • Hexosaminidases / metabolism*
  • Humans
  • Hybrid Cells
  • Lipidoses / enzymology
  • Lipidoses / genetics*
  • Male
  • Mannose
  • Mice
  • Pyruvate Kinase / metabolism

Substances

  • Pyruvate Kinase
  • Hexosaminidases
  • Carbohydrate Epimerases
  • Mannose