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NA02250 DNA from LCL

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA

Affected:

Yes

Sex:

Female

Age:

17 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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.

Characterizations

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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
 
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%.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
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.
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 1 missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
Identified Mutation 555G>C
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 2 missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
Identified Mutation G>T transversion in intron 3

Phenotypic Data

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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.

Publications

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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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Parris CN, Kraemer KH, Ultraviolet mutagenesis in human lymphocytes: the effect of cellular transformation. Exp Cell Res201(2):462-9 1992
PubMed ID: 1322318
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989
PubMed ID: 2918867
 
Willis AE, Lindahl T, DNA ligase I deficiency in Bloom's syndrome. Nature325:355-7 1987
PubMed ID: 3808031
 
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
 
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
 
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
 
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
 
Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980
PubMed ID: 7352988
 
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

External Links

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dbSNP dbSNP ID: 10498
Gene Cards XPA
Gene Ontology GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7507
NCBI GTR 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
OMIM 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
Omim Description XERODERMA PIGMENTOSUM I; XP1
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
  XP, GROUP A
  XPA COMPLEMENTING; XPAC
  XPA CORRECTING
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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