Abstract

This project is designed to determine the nucleic acid defects in human and canine alpha-L-fucosidosis, determine whether the electrophoretic enzyme polymorphism of human alpha-L- fucosidosis is coded by the structural FUC Al locus, and determine whether the low enzyme activity polymorphism of human alpha-L-fucosidase is coded by FUC Al. A second goal is to complete the isolation of a cDNA coding for arylsulfatase A, perform DNA sequence analysis for this cDNA, map the precise chromosomal location of ARSA and determine nucleic acid defects in human metachromatic leucodystrophy.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD018983-06
Application #
3316131
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1984-12-01
Project End
1992-06-30
Budget Start
1990-07-01
Budget End
1992-06-30
Support Year
6
Fiscal Year
1990
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

Kretz, K A; O'Brien, J S (1993) Direct sequencing of polymerase chain reaction products from low melting temperature agarose. Methods Enzymol 218:72-9
Tayama, M; Soeda, S; Kishimoto, Y et al. (1993) Effect of saposins on acid sphingomyelinase. Biochem J 290 ( Pt 2):401-4
Tayama, M; O'Brien, J S; Kishimoto, Y (1992) Distribution of saposins (sphingolipid activator proteins) in tissues of lysosomal storage disease patients. J Mol Neurosci 3:171-5
Kretz, K A; Cripe, D; Carson, G S et al. (1992) Structure and sequence of the human alpha-L-fucosidase gene and pseudogene. Genomics 12:276-80
Kishimoto, Y; Hiraiwa, M; O'Brien, J S (1992) Saposins: structure, function, distribution, and molecular genetics. J Lipid Res 33:1255-67
O'Brien, J S; Kishimoto, Y (1991) Saposin proteins: structure, function, and role in human lysosomal storage disorders. FASEB J 5:301-8
Hiraiwa, M; Uda, Y; Tsuji, S et al. (1991) Human placental sialidase complex: characterization of the 60 kDa protein that cross-reacts with anti-saposin antibodies. Biochem Biophys Res Commun 177:1211-6
Morimoto, S; Yamamoto, Y; O'Brien, J S et al. (1990) Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. Proc Natl Acad Sci U S A 87:3493-7
Morimoto, S; Kishimoto, Y; Tomich, J et al. (1990) Interaction of saposins, acidic lipids, and glucosylceramidase. J Biol Chem 265:1933-7
Kretz, K A; Carson, G S; Morimoto, S et al. (1990) Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. Proc Natl Acad Sci U S A 87:2541-4

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