Home LiteratureArticle Details

PMID: 3863141 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 82 ·No. 20 ·1985-10-00 ·Pages 7101-5

Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, Barranger JA

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.

MeSH Terms

Animals Cell Line Chromosome Mapping Chromosomes, Human, 1-3 Cricetinae Cricetulus Gaucher Disease/enzymology,genetics Genes Glucosidases/genetics Glucosylceramidase/genetics Humans Hybrid Cells/enzymology Molecular Weight Nucleic Acid Hybridization Protein Sorting Signals/genetics

Chemicals

Protein Sorting Signals Glucosidases Glucosylceramidase

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Ginns E I

Choudary P V

Tsuji S

Martin B

Stubblefield B

Sawyer J

Hozier J

Barranger J A

References (20)

20 references, click to expand

Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1.
Cytogenet Cell Genet. 1982;33(4):340-4 PMID: 6816512
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
Proc Natl Acad Sci U S A. 1982 Sep;79(18):5607-10 PMID: 6957882
Determination of Gaucher's disease phenotypes with monoclonal antibody.
Clin Chim Acta. 1983 Jul 15;131(3):283-7 PMID: 6883722
Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies.
Hum Genet. 1983;64(3):227-31 PMID: 6885065
Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene".
Hum Genet. 1983;65(2):112-6 PMID: 6418635
Compilation of published signal sequences.
Nucleic Acids Res. 1984 Jul 11;12(13):5145-64 PMID: 6379599
Protein translocation across the endoplasmic reticulum.
Cell. 1984 Aug;38(1):5-8 PMID: 6088076
Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system.
Biochem Biophys Res Commun. 1984 Sep 17;123(2):574-80 PMID: 6091633
Polymorphism of human constitutive heterochromatin.
Science. 1971 Nov 12;174(4010):702-4 PMID: 5123418
Detection of specific sequences among DNA fragments separated by gel electrophoresis.
J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.
Anal Biochem. 1976 May 7;72:248-54 PMID: 942051
DNA sequencing with chain-terminating inhibitors.
Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7 PMID: 271968
The characterization of high-resolution G-banded chromosomes of man.
Chromosoma. 1978 Aug 14;67(4):293-307 PMID: 357112
Giemsa-11 staining of chromosome 1: a newly described heteromorphism.
Science. 1978 Oct 6;202(4363):64-5 PMID: 694520
Sequencing end-labeled DNA with base-specific chemical cleavages.
Methods Enzymol. 1980;65(1):499-560 PMID: 6246368
Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.
Chromosoma. 1981;83(3):431-9 PMID: 7273954
Biosynthesis of lysosomal hydrolases: their synthesis in bound polysomes and the role of co- and post-translational processing in determining their subcellular distribution.
J Cell Biol. 1982 Apr;93(1):135-43 PMID: 7068751
A set of synthetic oligodeoxyribonucleotide primers for DNA sequencing in the plasmid vector pBR322.
Gene. 1981 Dec;16(1-3):21-6 PMID: 6282692
Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.
Prog Clin Biol Res. 1982;95:33-65 PMID: 6289358
A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells.
Mol Cell Biol. 1983 Feb;3(2):280-9 PMID: 6300662

Article Info

Journal

Proceedings of the National Academy of Sciences of the United States of America

Abbr.

Proc Natl Acad Sci U S A

ISSN

0027-8424

DOI

10.1073/pnas.82.20.7101

Published

1985-10-00

Pages

7101-5

Language

English

Region

United States

NLM ID

7505876

PMCID

PMC391318

Subset

External Links

PubMed source DOI: 10.1073/pnas.82.20.7101 PMC Full Text View journal details

Analysis Services

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

Contact

WeChat Official Account