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 language | English (US) |
|---|---|
| Pages (from-to) | 7101-7105 |
| Number of pages | 5 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Volume | 82 |
| Issue number | 20 |
| DOIs | |
| State | Published - 1985 |
| Externally published | Yes |
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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 journal › Article
}
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 -