NA03877
DNA from Fibroblast
Description:
PYROGLUTAMICACIDURIA
GLUTATHIONE SYNTHETASE; GSS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
9 |
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| 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).
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| |
| 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.
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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