Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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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 XP cells. 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 culture was 79%. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative 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 |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
555G>C |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
G>T transversion in intron 3 |
| Remarks |
XP12BE; multiple skin cancers; acute sun sensitivity; progressive neurological degeneration; <2% of normal UV induced unscheduled DNA synthesis in fibroblasts; same patient as ATCC CRL 1223; see GM04429 (SV40 transformed fibroblast) and GM05509 (fibroblast); the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice; the second allele carries a G-to-T transversion in intron 3 which abolishes the canonical 3-prime splice site and results in a missplice. |
| Dianov G, Bischoff C, Piotrowski J, Bohr VA, Repair pathways for processing of 8-oxoguanine in DNA by mammalian cell extracts. J Biol Chem273:33811-6 1998 |
| PubMed ID: 9837971 |
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| Tzung TY, Diem C, Runger TM, Assessment of microsatellite instability in a cell line from a patient with xeroderma pigmentosum variant. Arch Dermatol Res290:109-12 1998 |
| PubMed ID: 9558484 |
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| Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA, Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc Natl Acad Sci U S A94(9):4306-11 1997 |
| PubMed ID: 9113985 |
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| Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996 |
| PubMed ID: 8823375 |
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| States JC, Myrand SP, Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. Mutat Res363:171-7 1996 |
| PubMed ID: 8765158 |
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| Nelson WG, Kastan MB, DNA strand breaks: the DNA template alterations that trigger p53- dependent DNA damage response pathways. Mol Cell Biol14:1815-23 1994 |
| PubMed ID: 8114714 |
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| Shivji MK, Eker AP, Wood RD, DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells. J Biol Chem269:22749-57 1994 |
| PubMed ID: 8077226 |
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| Bronstein SM, Hooth MJ, Swenberg JA, Skopek TR, Modulation of ethylnitrosourea-induced toxicity and mutagenicity in human cells by O6-benzylguanine. Cancer Res52:3851-6 1992 |
| PubMed ID: 1617659 |
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| Bronstein SM, Skopek TR, Swenberg JA, Efficient repair of O6-ethylguanine, but not O4-ethylthymine or O2- ethylthymine, is dependent upon O6-alkylguanine-DNA alkyltransferase and nucleotide excision repair activities in human cells [see comments] Cancer Res52:2008-11 1992 |
| PubMed ID: 1551130 |
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| Parris CN, Kraemer KH, Ultraviolet mutagenesis in human lymphocytes: the effect of cellular
transformation. Exp Cell Res201(2):462-9 1992 |
| PubMed ID: 1322318 |
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| Bronstein SM, Cochrane JE, Craft TR, Swenberg JA, Skopek TR, Toxicity, mutagenicity, and mutational spectra of N-ethyl-N-nitrosourea in human cell lines with different DNA repair phenotypes. Cancer Res51:5188-97 1991 |
| PubMed ID: 1655249 |
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| Robins P, Jones CJ, Biggerstaff M, Lindahl T, Wood RD, Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA. EMBO J10:3913-21 1991 |
| PubMed ID: 1935910 |
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| Seetharam S, Kraemer KH, Waters HL, Seidman MM, Ultraviolet mutational spectrum in a shuttle vector propagated in xeroderma pigmentosum lymphoblastoid cells and fibroblasts. Mutat Res254:97-105 1991 |
| PubMed ID: 1986277 |
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| Chu G, Chang E, Cisplatin-resistant cells express increased levels of a factor that recognizes damaged DNA. Proc Natl Acad Sci U S A87:3324-8 1990 |
| PubMed ID: 2333286 |
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| Parrish DD, Lambert MW, Chromatin-associated DNA endonucleases from xeroderma pigmentosum cells are defective in interaction with damaged nucleosomal DNA. Mutat Res235:65-80 1990 |
| PubMed ID: 2308593 |
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| Seetharam S, Kraemer KH, Waters HL, Seidman MM, Mutational hotspot variability in an ultraviolet-treated shuttle vector plasmid
propagated in xeroderma pigmentosum and normal human lymphoblasts and
fibroblasts. J Mol Biol212(3):433-6 1990 |
| PubMed ID: 2182882 |
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| Tsongalis GJ, Lambert WC, Lambert MW, Electroporation of normal human DNA endonucleases into xeroderma pigmentosum cells corrects their DNA repair defect. Carcinogenesis11:499-503 1990 |
| PubMed ID: 2311196 |
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| Tsongalis GJ, Lambert WC, Lambert MW, Correction of the ultraviolet light induced DNA-repair defect in xeroderma pigmentosum cells by electroporation of a normal human endonuclease [published erratum appears in Mutat Res 1990 Oct;245(2):135] Mutat Res244:257-63 1990 |
| PubMed ID: 2366820 |
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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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| Willis AE, Lindahl T, DNA ligase I deficiency in Bloom's syndrome. Nature325:355-7 1987 |
| PubMed ID: 3808031 |
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| Perera MI, Um KI, Greene MH, Waters HL, Bredberg A, Kraemer KH, Hereditary dysplastic nevus syndrome: lymphoid cell ultraviolet hypermutability in association with increased melanoma susceptibility. Cancer Res46:1005-9 1986 |
| PubMed ID: 3940625 |
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| Ishida R, Buchwald M, Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res42:4000-6 1982 |
| PubMed ID: 6809308 |
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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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| Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980 |
| PubMed ID: 7352988 |
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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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