| First Author | Ginns EI | Year | 1985 |
| Journal | Proc Natl Acad Sci U S A | Volume | 82 |
| Issue | 20 | Pages | 7101-5 |
| PubMed ID | 3863141 | Mgi Jnum | J:8046 |
| Mgi Id | MGI:56515 | Doi | 10.1073/pnas.82.20.7101 |
| Citation | Ginns EI, et al. (1985) Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A 82(20):7101-5 |
| abstractText | 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. |
