Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of Carbohydrate Metabolism |
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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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Race
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White
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Family Member
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6
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Relation to Proband
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sister
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,X,t(X;3)(Xpter>Xq26::3p12> 3pter;3qter>3p12::Xq26>Xqter)mat [48]/46,XX [2]
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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 |
12 |
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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 and by Chromosome Analysis |
| |
| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0006; GALACTOSEMIA |
| Identified Mutation |
GLN188ARG; Reichardt et al. [Am J Hum Genet 49: 860 (1991)] demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188. The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad. Lymphoblasts from subjects homozygous for the GLN188ARG mutation show essentially no detectable GALT activity [Fridovich-Keil and Jinks-Robertson. Proc Nat Acad Sci USA 90: 398 (1993)]. |
| Remarks |
Normal transferase and kinase activity in fibroblasts; 46,XX/46,X,t(X;3)(Xpter>Xq26:: 3p12>3pter;3qter>3p12::Xq26>Xqter)mat; bal; 4%/96%; norm X is late replicating; 2 affected sibs; GALT gene mutation is [Gly188Arg (Q188R)]/+ |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| LaForgia S, Lasota J, Latif F, Boghosian-Sell L, Kastury K, Ohta M, Druck T, Atchison L, Cannizzaro LA, Barnea G, et al, Detailed genetic and physical map of the 3p chromosome region surrounding the familial renal cell carcinoma chromosome translocation, t(3;8)(p14.2;q24.1). Cancer Res53:3118-24 1993 |
| PubMed ID: 8319219 |
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| Sieburth D, Jabs EW, Warrington JA, Li X, Lasota J, LaForgia S, Kelleher K, Huebner K, Wasmuth JJ, Wolf SF, Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. Genomics14:59-62 1992 |
| PubMed ID: 1358798 |
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| Dobrovic A, Houle B, Belouchi A, Bradley WE, erbA-related sequence coding for DNA-binding hormone receptor localized to chromosome 3p21-3p25 and deleted in small cell lung carcinoma. Cancer Res48:682-5 1988 |
| PubMed ID: 2891438 |
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| Kaffe S, Beratis NG, Hirschhorn K, Greene AE, Coriell LL, Galactosemia. Repository identification Nos. GM-438 to GM-442. Cytogenet Cell Genet17:62-4 1976 |
| PubMed ID: 181209 |
| Passage Frozen |
12 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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