NA02227
DNA from Fibroblast
Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic 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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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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| PDL at Freeze |
6.06 |
| Passage Frozen |
5 |
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| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8; 0% activity. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
HPRT1 |
| Chromosomal Location |
Xq26-q27.2 |
| Allelic Variant 1 |
308000.0046; LESCH-NYHAN SYNDROME |
| Identified Mutation |
INV/DEL, EX6-9; In GM2227 from a patient with LNS, Edwards and Caskey (1990) found a complex rearrangement involving inversion and deletion of exons 6 to 9. No mRNA was found.
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| Remarks |
No detectable HPRT activity; no detectable stable HPRT mRNA; normal APRT activity; complex rearrangement involving insersion and deletion of exons 6-9 {inv/del,ex6-9} in the HPRT1 gene |
| Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A, Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening JCI insight: 2020 |
| PubMed ID: 31990683 |
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| Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018 |
| PubMed ID: 30326846 |
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| Hotamisligil GS, Breakefield XO, Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet49:383-92 1991 |
| PubMed ID: 1678250 |
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| Caskey CT, Disease diagnosis by recombinant DNA methods. Science236:1223-9 1987 |
| PubMed ID: 3296189 |
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| Vitkauskas G, Canellakis ES, Quantitation of metabolic cooperation by measurement of HGPRTase activity. Exp Cell Res156:537-43 1985 |
| PubMed ID: 2578405 |
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| Vitkauskas G, Canellakis ES, The regulation of hypoxanthine guanine phosphoribosyl transferase activity through transfer of PRPP by metabolic cooperation. Exp Cell Res152:541-51 1984 |
| PubMed ID: 6202536 |
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| Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT, Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature310:412-4 1984 |
| PubMed ID: 6087154 |
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| Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT, A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A80:4035-9 1983 |
| PubMed ID: 6306659 |
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| Torrelio BM, Paz MA, Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients. Biochem Biophys Res Commun87:380-7 1979 |
| PubMed ID: 220971 |
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