Description:
MENKES SYNDROME
ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal 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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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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 |
6 |
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| MNK GENE; MENKES SYNDROME |
Das et al (Am J Hum Genet 55:883-889,1994) reported that fibroblasts from this Menkes syndrome patient showed a five bp deletion, ATCTT, from nucleotide 803-807 in the MNK gene. The mutation results in a frameshift after Leu-219 and decreased level of mRNA detected by northern blot analysis. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ATP7A |
| Chromosomal Location |
Xq21.1 |
| Allelic Variant 1 |
fs Leu219; MENKES DISEASE |
| Identified Mutation |
803_807delATCTC |
| Remarks |
See GM01982 Lymph; fibroblasts exhibit elevated copper concentrations; abnormal metallothionein gene regulation in response to copper; SV40 transformed culture shows qualitative and quantitative changes in Mc1 mRNA; donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219 |
| Dagenais SL, Adam AN, Innis JW, Glover TW, A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet69(2):420-7 2001 |
| PubMed ID: 11431706 |
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| Yamaguchi Y, Heiny ME, Suzuki M, Gitlin JD, Biochemical characterization and intracellular localization of the Menkes disease protein. Proc Natl Acad Sci U S A93:14030-5 1996 |
| PubMed ID: 8943055 |
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| Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J, Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet55:883-889 1994 |
| PubMed ID: 7977350 |
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| Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J, Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase [published erratum appears in Nat Genet 1993 Mar;3(3):273] [see comments] Nat Genet3:7-13 1993 |
| PubMed ID: 8490659 |
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| Leone A, Pavlakis GN, Hamer DH, Menkes' disease: abnormal metallothionein gene regulation in response to copper. Cell40:301-9 1985 |
| PubMed ID: 3967294 |
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| LaBadie GU, Beratis NG, Price PM, Hirschhorn K, Studies of the copper-binding proteins in Menkes and normal cultured skin fibroblast lysates. J Cell Physiol106:173-8 1981 |
| PubMed ID: 6783668 |
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| Beratis NG, Price P, Labadie G, Hirschhorn K, 64Cu metabolism in Menkes and normal cultured skin fibroblasts. Pediatr Res12:699-702 1978 |
| PubMed ID: 673539 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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