Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.
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.
D000818:Animals; D002238:Carbohydrate Epimerases / Q000378:metabolism; D002460:Cell Line; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D002999:Clone Cells; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D006822:Hybrid Cells; D008064:Lipidoses / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008358:Mannose; D051379:Mice; D011770:Pyruvate Kinase / Q000378:metabolism
D011770:Pyruvate Kinase; D006596:Hexosaminidases; D002238:Carbohydrate Epimerases; D008358:Mannose