Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
DNA DAMAGE-BINDING PROTEIN 2; DDB2
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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 |
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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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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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| PDL at Freeze |
4.54 |
| Passage Frozen |
21 |
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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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| Gene |
DDB2 |
| Chromosomal Location |
11p12-p11 |
| Allelic Variant 1 |
600811.0002; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, SUBTYPE 2 |
| Identified Mutation |
ARG273HIS; In 2 of the 3 known cases of DDB-negative xeroderma pigmentosum, complementation group E, Nichols et al. (1996) found a G-to-A transition that caused an R273H amino acid change in the 48-kD subunit of the DDB protein.
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| Remarks |
XP2RO; ATCC CRL 1259; 2nd cousin of XP3RO (GM02450F Lymphoid); clinically affected; developed skin cancer at age 14; increased incidence of chromatid gaps following X ray irradiation; donor subject has a G>A transition at nucleotide 818 of the DDB2 gene (818G>A) resulting in the substitution of histidine for arginine at codon 273 [Arg273His (R273H)]. |
| Itoh T, O'Shea C, Linn S, Impaired regulation of tumor suppressor p53 caused by mutations in the xeroderma pigmentosum DDB2 gene: mutual regulatory interactions between p48(DDB2) and p53. Mol Cell Biol23(21):7540-53 2003 |
| PubMed ID: 14560002 |
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| Yamada K, Takezawa J, Ezaki O, Translesion replication in cisplatin-treated xeroderma pigmentosum variant cells is also caffeine-sensitive: features of the error-prone DNA polymerase(s) involved in UV-mutagenesis. DNA Repair (Amst)2(8):909-24 2003 |
| PubMed ID: 12893087 |
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| Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002 |
| PubMed ID: 12034848 |
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| Nichols AF, Itoh T, Graham JA, Liu W, Yamaizumi M, Linn S, Itoh T, Linn S, Ono T, Yamaizumi M, Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. J Invest Dermatol114:1022-9 2000 |
| PubMed ID: 10771487 |
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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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| Rapic Otrin V, Kuraoka I, Nardo T, McLenigan M, Eker AP, Stefanini M, Levine
AS, Wood RD, Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. Mol Cell Biol18(6):3182-90 1998 |
| PubMed ID: 9584159 |
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| Ghosh R, Peng CH, Mitchell DL, Evidence for a novel DNA damage binding protein in human cells. Proc Natl Acad Sci U S A93:6918-23 1996 |
| PubMed ID: 8692919 |
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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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| Nichols AF, Ong P, Linn S, Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. J Biol Chem271(40):24317-20 1996 |
| PubMed ID: 8798680 |
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| Okuno Y, Tateishi S, Yamaizumi M, Complementation of xeroderma pigmentosum cells by microinjection of mRNA fractionated under denaturing conditions: an estimation of sizes of XP-E and XP-G mRNA. Mutat Res314:11-9 1994 |
| PubMed ID: 7504187 |
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| Shiomi T, Harada Y, Saito T, Shiomi N, Okuno Y, Yamaizumi M, An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum. Mutat Res314:167-75 1994 |
| PubMed ID: 7510366 |
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| Colicos MA, Haj-Ahmad Y, Valerie K, Henderson EE, Rainbow AJ, Construction of a recombinant adenovirus containing the denV gene from bacteriophage T4 which can partially restore the DNA repair deficiency in xeroderma pigmentosum fibroblasts. Carcinogenesis12:249-55 1991 |
| PubMed ID: 1704821 |
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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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| Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987 |
| PubMed ID: 3030788 |
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| Barbis DP, Schultz RA, Friedberg EC, Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum. Mutat Res165:175-84 1986 |
| PubMed ID: 3010096 |
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| Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986 |
| PubMed ID: 3956584 |
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| Yamaizumi M, Sugano T, Asahina H, Okada Y, Uchida T, Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. Proc Natl Acad Sci U S A83:1476-9 1986 |
| PubMed ID: 3456596 |
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| Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983 |
| PubMed ID: 6196782 |
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| Parshad R, Sanford KK, Jones GM, Chromatid damage after G2 phase x-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair. Proc Natl Acad Sci U S A80:5612-6 1983 |
| PubMed ID: 6577447 |
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| Robbins JH, Polinsky RJ, Moshell AN, Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum. Ann Neurol13:682-4 1983 |
| PubMed ID: 6881931 |
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| Hays MD, Schenk RU, Vincent RA Jr, Xeroderma pigmentosum cells treated with proteases to relax chromatin structure do not exhibit increased unscheduled DNA synthesis. Mutat Res91:147-52 1981 |
| PubMed ID: 6789199 |
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| Lehmann AR, Kirk-Bell S, Arlett CF, Harcourt SA, de Weerd-Kastelein EA, Keijzer W, Hall-Smith P, Repair of ultraviolet light damage in a variety of human fibroblast cell strains. Cancer Res37:904-10 1977 |
| PubMed ID: 837385 |
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| Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barrett SF, Petinga RA, Bootsma D, Five complementation groups in xeroderma pigmentosum. Mutat Res33:327-40 1975 |
| PubMed ID: 1243579 |
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| Weerd-Kastelein EA de, Keijzer W, Bootsma D, A third complementation group in xeroderma pigmentosum. Mutat Res22:87-91 1974 |
| PubMed ID: 4842087 |
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| Kleijer WJ, Weerd-Kastelein EA de, Sluyter ML, Keijzer W, Wit J de, Bootsma D, UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res20:417-28 1973 |
| PubMed ID: 4778857 |
| Passage Frozen |
21 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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