Abstract

Three human lysosomal genes, beta-galactosidase, hexosaminidase A and hexosaminidase B, will be cloned. cDNA's for each will be isolated from a human liver lambda gtll library by screening for antibody reactive plaques. Full-length cDNA's will be isolated and sequenced to establish colinearity with amino acid sequences for each protein. Comparisons with mutants with GM1 and GM2 gangliosidosis will be made after analysis of mRNA and genomic fragments to establish the nucleic acid defects in selected cell lines. Beta-galactosidase cDNA will be inserted into an expression vector and gene therapy will be attempted in beagles with GM1 gangliosidosis.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
2R01NS008682-16
Application #
3393791
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1981-09-01
Project End
1991-11-30
Budget Start
1984-12-01
Budget End
1985-11-30
Support Year
16
Fiscal Year
1985
Total Cost
Indirect Cost

  Institution

Name
University of California San Diego
Department
Type
Schools of Medicine
DUNS #
077758407
City
La Jolla
State
CA
Country
United States
Zip Code
92093

  Publications

Dewji, N; Wenger, D; Fujibayashi, S et al. (1986) Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator. Biochem Biophys Res Commun 134:989-94