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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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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| 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 65%. 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 dihydrofollate reductase, a housekeeping gene, was the same as in controls. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| MEX PHENOTYPES |
Sklar and Strauss (NATURE 289:417-420,1981) assigned this culture a mex- phenotype based upon its ability to remove O6-MeG from alkylated DNA. |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
613208.0002; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
83-BP INS, NT462; In cell line XP3BE-L3, Li et al. [Nature Genet. 5: 413-417, (1993)] demonstrated an 83-bp insertion starting at position 462 in the XPC cDNA. |
| Remarks |
XP3BE; 46,XY; 10-20% of normal UV induced unscheduled DNA synthesis in fibroblasts; lymphoblastoid cell culture is hypersensitive to UV induced cell killing and mutagenesis; see GM00030 (fibroblast); no neurological abnormalities; the donor subject carries an 83-bp insertion starting at position 462 in the XPC cDNA. |
| Wang H, Hoffman PD, Lawrence C, Hays JB, Testing excision models for responses of mismatch-repair systems to UV photoproducts in DNA Environmental and molecular mutagenesis47:296-306 2006 |
| PubMed ID: 16493608 |
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| 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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| O'Driscoll M, Macpherson P, Xu YZ, Karran P, The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells. Carcinogenesis20:1855-62 1999 |
| PubMed ID: 10469634 |
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| Reardon JT, Bessho T, Kung HC, Bolton PH, Sancar A, In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients. Proc Natl Acad Sci U S A94:9463-8 1997 |
| PubMed ID: 9256505 |
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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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| Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A, Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J Biol Chem270:20862-9 1995 |
| PubMed ID: 7657672 |
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| Park CH, Sancar A, Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins. Proc Natl Acad Sci U S A91:5017-21 1994 |
| PubMed ID: 8197175 |
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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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| Hansson J, Grossman L, Lindahl T, Wood RD, Complementation of the xeroderma pigmentosum DNA repair synthesis defect with Escherichia coli UvrABC proteins in a cell-free system. Nucleic Acids Res18:35-40 1990 |
| PubMed ID: 2408009 |
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| Teitz T, Eli D, Penner M, Bakhanashvili M, Naiman T, Timme TL, Wood CM, Moses RE, Canaani D, Expression of the cDNA for the beta subunit of human casein kinase II confers partial UV resistance on xeroderma pigmentosum cells. Mutat Res236:85-97 1990 |
| PubMed ID: 1694965 |
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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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| Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):141-51 1988 |
| PubMed ID: 2918867 |
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| Tatsumi K, Toyoda M, Hashimoto T, Furuyama J, Kurihara T, Inoue M, Takebe H, Differential hypersensitivity of xeroderma pigmentosum lymphoblastoid cell lines to ultraviolet light mutagenesis. Carcinogenesis8:53-7 1987 |
| PubMed ID: 3802395 |
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| Berger NA, Sikorski GW, Poly(adenosine diphosphoribose) synthesis in ultraviolet-irradiated xeroderma pigmentosum cells reconstituted with Micrococcus luteus UV endonuclease. Biochemistry20:3610-4 1981 |
| PubMed ID: 6266458 |
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| Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH, A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro17:299-307 1981 |
| PubMed ID: 6263790 |
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| Sklar R, Strauss B, Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines. Nature289:417-20 1981 |
| PubMed ID: 7464910 |
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| Andrews AD, Robbins JH, Kraemer KH, Buell DN, Xeroderma pigmentosum long-term lymphoid lines with increased ultraviolet sensitivity. J Natl Cancer Inst53:691-693 1974 |
| PubMed ID: 4416919 |
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| Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG, Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med80:221-48 1974 |
| PubMed ID: 4811796 |
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