NA03877
DNA from Fibroblast
Description:
PYROGLUTAMICACIDURIA
GLUTATHIONE SYNTHETASE; GSS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| glutathione synthase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 6.3.2.3; 4% activity. |
| |
| Gene |
GSS |
| Chromosomal Location |
20q11.22 |
| Allelic Variant 1 |
601002.0002; 5-OXOPROLINURIA |
| Identified Mutation |
1-BP DEL, NT3/4G; See 601002.0001 and Shi et al. (1996).
|
| |
| Gene |
GSS |
| Chromosomal Location |
20q11.22 |
| Allelic Variant 2 |
601002.0001; 5-OXOPROLINURIA |
| Identified Mutation |
ARG164GLN; In a family in which 2 brothers exhibited 5-oxoprolinuria, metabolic acidosis, hemolytic anemia, and mental retardation, Shi et al. (1996) found compound heterozygosity for mutations in the GSS gene: a G-to-A transition at the end of exon 4 (position 491) of the cDNA, which may cause an RNA splicing error or a missense mutation (arg164-to-gln); and, in exon 1, a deletion of G corresponding to nucleotide 3 or 4 in the cDNA sequence (+1ATGGCC...), predicting a frameshift and/or abolition of the translational initiation site. These 2 changes were designated as 491G-A and 3(4)delG, respectively.
|
| Remarks |
Metabolic acidosis; hemolytic anemia; similarly affected sib; approximately 6% of control fibroblast glutathione level; 4% of normal glutathione synthetase activity |
| Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW, Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet14(3):361-5 1996 |
| PubMed ID: 8896573 |
| |
| Geard CR, Georgsson MA, Glutathione levels and cytotoxicity of a thiol activated alkylating agent in human and mouse cells. Int J Radiat Oncol Biol Phys12:1179-82 1986 |
| PubMed ID: 3744937 |
| |
| Miller AC, Henderson BW, The influence of cellular glutathione content on cell survival following photodynamic treatment in vitro. Radiat Res107:83-94 1986 |
| PubMed ID: 2942963 |
| |
| Parshad R, Gantt R, Sanford KK, Jones GM, Chromosomal radiosensitivity of human tumor cells during the G2 cell cycle period. Cancer Res44:5577-82 1984 |
| PubMed ID: 6498819 |
| |
| Wellner VP, Anderson ME, Puri RN, Jensen GL, Meister A, Radioprotection by glutathione ester: transport of glutathione ester into human lymphoid cells and fibroblasts. Proc Natl Acad Sci U S A81:4732-5 1984 |
| PubMed ID: 6146978 |
|
|