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In cultured lymphoblasts of Fu-1 phenotype, Tummler et al. (1984) found that alpha-L-fucosidase synthesis during cell growth was proportional to the general amount of protein. On the other hand, in cells derived from persons possessing at least one FUCA*2 allele, the amount of enzyme increased progressively during the log-phase of growth. They proposed the existence of a regulatory locus (symbolized FUCT) which maps close to the FUCA locus leading to linkage disequilibrium. The FUCT locus appears to be specific for alpha-L-fucosidase; 4 other lysosomal enzymes showed no similar effects. Studies in inbred strains of mice have shown such regulators of lysosomal enzymes (see review by Paigen, 1979) but none has been demonstrated hitherto in man.
Paigen, K. Acid hydrolases as models of genetic control. Annu. Rev. Genet. 13: 417-466, 1979. [PubMed: 231933] [Full Text: https://doi.org/10.1146/annurev.ge.13.120179.002221]
Tummler, B., Duthie, M., Buchwald, M., Riordan, J. R. A gene regulating the time dependence of alpha-L-fucosidase concentration is closely linked with the structural gene in man. Hum. Genet. 67: 396-399, 1984. [PubMed: 6490007] [Full Text: https://doi.org/10.1007/BF00291398]