GM02415

GM02415 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
DNA DAMAGE-BINDING PROTEIN 2; DDB2

Affected:

Yes

Sex:

Female

Age:

34 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic Acid Metabolism

Class

Repair Defective and Chromosomal Instability Syndromes

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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)].

Characterizations

PDL at Freeze

4.54

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

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.

Phenotypic Data

Remarks

Publications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986

PubMed ID: 3956584

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

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

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

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

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

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

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

Weerd-Kastelein EA de, Keijzer W, Bootsma D, A third complementation group in xeroderma pigmentosum. Mutat Res22:87-91 1974

PubMed ID: 4842087

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