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

E. I. Ginns, Prabhakara V Choudary, S. Tsuji, B. Martin, B. Stubblefield, J. Sawyer, J. Hozier, J. A. Barranger

Research output: Contribution to journalArticle

85 Scopus citations


Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; β-D-glucosyl-N-acylsphingosine glucohydrolase, EC to chromosome 1 bands q21-q32. In situ hyridization 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.

Original languageEnglish (US)
Pages (from-to)7101-7105
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number20
StatePublished - 1985
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • General

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