Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
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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 |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| DNA METHYLATION |
Sano et al (Mutation Res 217:141-151,1989) examined DNA methylation in normal and Xeroderma pigmentosum cell lines. The amount of 5-methylcytosine in DNA from XP cell lines was on average about 70% of that in DNA from normal controls. The value observed for this XP cell line was 94%. Southern hybridization analysis showed that the HLA-DRa gene in XP B-lymphoblasts was differently methylated from normals, but its expression was apparently unaffected. The methylation of dihydrofolate reductase, a housekeeping gene, was the same as in controls. |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
613208.0001; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
PRO218HIS; In cell line XP1MI, Li et al. [Nature Genet. 5: 413-417, (1993)] found, by complete sequencing of the 2,472 bp coding sequence of the XPC gene, a point mutation that converted proline at position 218 to histidine. The finding suggested that the cell line was either homozygous or hemizygous for this mutation. The XP1MI cell line was the most UV-sensitive of the five cell lines analyzed by Li et al. [Nature Genet. 5: 413-417, (1993)]. Furthermore, the patient demonstrated XP-associated neurologic abnormalities, a rarity in group C. |
| Remarks |
De Sanctis-Cacchione; lupus erythematosus; XP1MI; low level of UV induced unscheduled DNA synthesis in fibroblasts; see GM02096 (fibroblast); XP-associated neurologic abnormalities, a rarity in group C; the donor subject carries a point mutation that converts the proline at position 218 to histidine [Pro218His (P218H)]. The cell line is either homozygous or hemizygous for this mutation. |
| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Gunz D, Hess MT, Naegeli H, Recognition of DNA adducts by human nucleotide excision repair. Evidence for a thermodynamic probing mechanism. J Biol Chem271:25089-98 1996 |
| PubMed ID: 8810263 |
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| Reardon JT, Mu D, Sancar A, Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease. J Biol Chem271:19451-6 1996 |
| PubMed ID: 8702634 |
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| Li L, Bales ES, Peterson CA, Legerski RJ, Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet5(4):413-7 1993 |
| PubMed ID: 8298653 |
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| Zhukovskaya N, Rydberg B, Karran P, Inactive O6-methylguanine-DNA methyltransferase in human cells. Nucleic Acids Res20:6081-90 1992 |
| PubMed ID: 1461738 |
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| Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989 |
| PubMed ID: 2918867 |
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| Hananian J, Cleaver JE, Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Clin Genet17:39-45 1980 |
| PubMed ID: 7389185 |
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