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

83 Citations (Scopus)

Abstract

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 3.2.1.45) 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
Volume82
Issue number20
DOIs
StatePublished - 1985
Externally publishedYes

Fingerprint

Glucosylceramidase
Gaucher Disease
Chromosome Mapping
Peptides
Chromosomes, Human, Pair 1
Hybrid Cells
Human Chromosomes
Cricetulus
Complementary DNA
Mutation
Enzymes
Genes
Proteins

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Gene mapping and leader polypeptide sequence of human glucocerebrosidase : Implications for Gaucher disease. / Ginns, E. I.; Choudary, Prabhakara V; Tsuji, S.; Martin, B.; Stubblefield, B.; Sawyer, J.; Hozier, J.; Barranger, J. A.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 82, No. 20, 1985, p. 7101-7105.

Research output: Contribution to journalArticle

Ginns, E. I. ; Choudary, Prabhakara V ; Tsuji, S. ; Martin, B. ; Stubblefield, B. ; Sawyer, J. ; Hozier, J. ; Barranger, J. A. / Gene mapping and leader polypeptide sequence of human glucocerebrosidase : Implications for Gaucher disease. In: Proceedings of the National Academy of Sciences of the United States of America. 1985 ; Vol. 82, No. 20. pp. 7101-7105.
@article{828c992ebd7549dd9ec31b33feafc2c4,
title = "Gene mapping and leader polypeptide sequence of human glucocerebrosidase: Implications for Gaucher disease",
abstract = "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 3.2.1.45) 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.",
author = "Ginns, {E. I.} and Choudary, {Prabhakara V} and S. Tsuji and B. Martin and B. Stubblefield and J. Sawyer and J. Hozier and Barranger, {J. A.}",
year = "1985",
doi = "10.1073/pnas.82.20.7101",
language = "English (US)",
volume = "82",
pages = "7101--7105",
journal = "Proceedings of the National Academy of Sciences of the United States of America",
issn = "0027-8424",
number = "20",

}

TY - JOUR

T1 - Gene mapping and leader polypeptide sequence of human glucocerebrosidase

T2 - Implications for Gaucher disease

AU - Ginns, E. I.

AU - Choudary, Prabhakara V

AU - Tsuji, S.

AU - Martin, B.

AU - Stubblefield, B.

AU - Sawyer, J.

AU - Hozier, J.

AU - Barranger, J. A.

PY - 1985

Y1 - 1985

N2 - 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 3.2.1.45) 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.

AB - 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 3.2.1.45) 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.

UR - http://www.scopus.com/inward/record.url?scp=2642707314&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2642707314&partnerID=8YFLogxK

U2 - 10.1073/pnas.82.20.7101

DO - 10.1073/pnas.82.20.7101

M3 - Article

C2 - 3863141

AN - SCOPUS:2642707314

VL - 82

SP - 7101

EP - 7105

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

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

SN - 0027-8424

IS - 20

ER -