Gene Mapping and Leader Polypeptide Sequence of Human Glucocerebrosidase: Implications for Gaucher Disease

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1985 Oct 1

PMID 3863141

Citations 30

Authors

E I Ginns

P V Choudary

S Tsuji

B Martin

B Stubblefield

J Sawyer

J Hozier

J A Barranger

Affiliations

Soon will be listed here.

Abstract

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.

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