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Ginns, E.I. et al.

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta- D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32. In situ hybridization of a radiolabeled human glucocerebrosidase cDNA to high resolution human chromosomes demonstrated that a single locus encoding glucocerebrosidase is on 1q21, adjacent to a region of chromosome 1 (1qh) abundant in structural heteromorphisms. We also have identified a hydrophobic leader polypeptide encoded by this locus, permitting a more complete description of the biosynthesis of the enzyme. These results suggest that the type-specific protein polymorphisms in Gaucher disease result from mutations at this single locus, whose segregation might be followed by linkage to visible chromosomal heteromorphisms.[1]

References

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Ginns, E.I., Choudary, P.V., Tsuji, S., Martin, B., Stubblefield, B., Sawyer, J., Hozier, J., Barranger, J.A. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]

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