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 |
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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Simian Virus 40
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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 and by Chromosome Analysis |
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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 |
Multiple skin cancers; acute sun sensitivity; progressive neurological degeneration; T-antigen positive; 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; less than 2% of normal UV induced unscheduled DNA synthesis in fibroblasts; XP12BE; SV40 transformed; passage 7 at CCR; see GM02250 (lymphoblast) and GM05509 (fibroblast). |
| Leggett CS, Doll MA, States JC, Hein DW, Acetylation of putative arylamine and alkylaniline carcinogens in immortalized human fibroblasts transfected with rapid and slow acetylator N-acetyltransferase 2 haplotypes Archives of toxicology: 2020 |
| PubMed ID: 33136180 |
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| Yoon JH, Basu D, Sellamuthu K, Johnson RE, Prakash S, Prakash L, A novel role of DNA polymerase ? in translesion synthesis in conjunction with DNA polymerase ? Life science alliance4: 2020 |
| PubMed ID: 33514655 |
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| Sarker AH, Trego KS, Zhang W, Jacob P, Snijders A, Mao JH, Schick SF, Cooper PK, Hang B, Thirdhand Smoke Exposure Causes Replication Stress and Impaired Transcription in Human Lung Cells Environmental and molecular mutagenesis4: 2019 |
| PubMed ID: 32267018 |
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| Shafirovich V, Kropachev K, Kolbanovskiy M, Geacintov NE, Excision of Oxidatively Generated Guanine Lesions by Competing Base and Nucleotide Excision Repair Mechanisms in Human Cells Chemical research in toxicology4: 2019 |
| PubMed ID: 30688445 |
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| Ræder SB, Nepal A, Bjørås KØ, Seelinger M, Kolve RS, Nedal A, Müller R, Otterlei M, APIM-Mediated REV3L?PCNA Interaction Important for Error Free TLS Over UV-Induced DNA Lesions in Human Cells International journal of molecular sciences20: 2018 |
| PubMed ID: 30597836 |
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| Yoon JH, McArthur MJ, Park J, Basu D, Wakamiya M, Prakash L, Prakash S, Error-Prone Replication through UV Lesions by DNA Polymerase ? Protects against Skin Cancers Cell176:1295-1309.e15 2018 |
| PubMed ID: 30773314 |
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| Mazouzi A, Battistini F, Moser SC, Ferreira da Silva J, Wiedner M, Owusu M, Lardeau CH, Ringler A, Weil B, Neesen J, Orozco M, Kubicek S, Loizou JI, Repair of UV-Induced DNA Damage Independent of Nucleotide Excision Repair Is Masked by MUTYH Molecular cell68:797-807.e7 2017 |
| PubMed ID: 29149600 |
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| Hu J, Choi JH, Gaddameedhi S, Kemp MG, Reardon JT, Sancar A, Nucleotide excision repair in human cells: fate of the excised oligonucleotide carrying DNA damage in vivo The Journal of biological chemistry288:20918-26 2013 |
| PubMed ID: 23749995 |
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| Gilljam KM, Müller R, Liabakk NB, Otterlei M, Nucleotide excision repair is associated with the replisome and its efficiency depends on a direct interaction between XPA and PCNA PloS one7:e49199 2012 |
| PubMed ID: 23152873 |
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| Fan W, Luo J, SIRT1 regulates UV-induced DNA repair through deacetylating XPA Molecular cell39:247-58 2009 |
| PubMed ID: 20670893 |
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| Fan W, Luo J, RecQ4 facilitates UV-induced DNA damage repair through interaction with nucleotide excision repair factor XPA The Journal of biological chemistry39:247-58 2008 |
| PubMed ID: 18693251 |
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| Wu X, Shell SM, Yang Z, Zou Y, Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related-dependent checkpoint pathway promotes cell survival in response to UV irradiation Cancer research66:2997-3005 2006 |
| PubMed ID: 16540648 |
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| Kalish JM, Seidman MM, Weeks DL, Glazer PM, Triplex-induced recombination and repair in the pyrimidine motif. Nucleic Acids Res33(11):3492-502 2005 |
| PubMed ID: 15961731 |
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| Gao H, Chen XB, McGowan CH, Mus81 endonuclease localizes to nucleoli and to regions of DNA damage in human S-phase cells. Mol Biol Cell14(12):4826-34 2003 |
| PubMed ID: 14638871 |
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| Morelli C, Karayianni E, Magnanini C, Mungall AJ, Thorland E, Negrini M, Smith DI, Barbanti-Brodano G, Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors Oncogene21:7266-76 2002 |
| PubMed ID: 12370818 |
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| Oakley GG, Loberg LI, Yao J, Risinger MA, Yunker RL, Zernik-Kobak M, Khanna KK, Lavin MF, Carty MP, Dixon K, UV-induced hyperphosphorylation of replication protein a depends on DNA replication and expression of ATM protein. Mol Biol Cell12(5):1199-213 2001 |
| PubMed ID: 11359916 |
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| Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999 |
| PubMed ID: 10480367 |
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| Cordeiro-Stone M, Zaritskaya LS, Price LK, Kaufmann WK, Replication fork bypass of a pyrimidine dimer blocking leading strand DNA synthesis. J Biol Chem272:13945-13954 1997 |
| PubMed ID: 9153257 |
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| Merk O, Speit G, Characterization of SV40-transformed xeroderma pigmentosum cell lines for their
usability in HPRT mutation studies. Mutagenesis12(5):391-5 1997 |
| PubMed ID: 9379920 |
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| Myrand SP, Topping RS, States JC, Stable transformation of xeroderma pigmentosum group A cells with an XPA
minigene restores normal DNA repair and mutagenesis of UV-treated plasmids. Carcinogenesis17(9):1909-17 1996 |
| PubMed ID: 8824513 |
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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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| Wang G, Seidman MM, Glazer PM, Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science271(5250):802-5 1996 |
| PubMed ID: 8628995 |
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| Endo H, Schut HA, Snyderwine EG, Mutagenic specificity of 2-amino-3-methylimidazo[4,5-f]quinoline and
2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine in the supF shuttle vector
system. Cancer Res54(14):3745-51 1994 |
| PubMed ID: 8033094 |
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| Meyn MS, High spontaneous intrachromosomal recombination rates in ataxia- telangiectasia. Science260:1327-30 1993 |
| PubMed ID: 8493577 |
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| States JC, Quan T, Hines RN, Novak RF, Runge-Morris M, Expression of human cytochrome P450 1A1 in DNA repair deficient and proficient human fibroblasts stably transformed with an inducible expression vector. Carcinogenesis14:1643-9 1993 |
| PubMed ID: 8353849 |
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| Levy DD, Groopman JD, Lim SE, Seidman MM, Kraemer KH, Sequence specificity of aflatoxin B1-induced mutations in a plasmid replicated in xeroderma pigmentosum and DNA repair proficient human cells. Cancer Res52:5668-73 1992 |
| PubMed ID: 1394191 |
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| Luethy JD, Holbrook NJ, Activation of the gadd153 promoter by genotoxic agents: a rapid and specific response to DNA damage. Cancer Res52:5-10 1992 |
| PubMed ID: 1727386 |
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| Ben-Ishai R, Scharf R, Sharon R, Kapten I, A human cellular sequence implicated in trk oncogene activation is DNA damage inducible. Proc Natl Acad Sci U S A87:6039-43 1990 |
| PubMed ID: 1696715 |
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| Rinaldy A, Bellew T, Egli E, Lloyd RS, Increased UV resistance in xeroderma pigmentosum group A cells after transformation with a human genomic DNA clone. Proc Natl Acad Sci U S A87:6818-22 1990 |
| PubMed ID: 2168562 |
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| Lattier DL, States JC, Hutton JJ, Wiginton DA, Cell type-specific transcriptional regulation of the human adenosine deaminase gene. Nucleic Acids Res17:1061-76 1989 |
| PubMed ID: 2784203 |
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| Akeson AL, Wiginton DA, Dusing MR, States JC, Hutton JJ, Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. J Biol Chem263:16291-6 1988 |
| PubMed ID: 3182793 |
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| Protic M, Roilides E, Levine AS, Dixon K, Enhancement of DNA repair capacity of mammalian cells by carcinogen treatment. Somat Cell Mol Genet14:351-7 1988 |
| PubMed ID: 3135602 |
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| Brash DE, Seetharam S, Kraemer KH, Seidman MM, Bredberg A, Photoproduct frequency is not the major determinant of UV base substitution hot spots or cold spots in human cells. Proc Natl Acad Sci U S A84:3782-6 1987 |
| PubMed ID: 3473483 |
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| Seidman MM, Bredberg A, Seetharam S, Kraemer KH, Multiple point mutations in a shuttle vector propagated in human cells: evidence for an error-prone DNA polymerase activity. Proc Natl Acad Sci U S A84:4944-8 1987 |
| PubMed ID: 3474635 |
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| Bredberg A, Kraemer KH, Seidman MM, Restricted ultraviolet mutational spectrum in a shuttle vector propagated in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A83:8273-7 1986 |
| PubMed ID: 3464953 |
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| Protic-Sabljic M, Kraemer KH, Host cell reactivation by human cells of DNA expression vectors damaged by ultraviolet radiation or by acid-heat treatment. Carcinogenesis7:1765-70 1986 |
| PubMed ID: 3463438 |
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| Protic-Sabljic M, Kraemer KH, Reduced repair of non-dimer photoproducts in a gene transfected into xeroderma pigmentosum cells. Photochem Photobiol43:509-13 1986 |
| PubMed ID: 3526363 |
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| Kuhnlein U, Comparison of apurinic DNA-binding protein from an ataxia telangiectasia and a HeLa cell line. Evidence for an altered processing of apurinic/apyrimidinic endonuclease. J Biol Chem260:14918-24 1985 |
| PubMed ID: 2415510 |
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| Protic-Sabljic M, Kraemer KH, One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A82:6622-6 1985 |
| PubMed ID: 2995975 |
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| Kuhnlein U, Tsang SS, Lokken O, Tong S, Twa D, Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity. Biosci Rep3:667-74 1983 |
| PubMed ID: 6684957 |
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| Protic-Sabljic, Transfection of Xeroderma pigmentosum cells with cloned DNA (from Cellular Responses To DNA Damage, Alan R. Liss, Inc .) "Cellular Respon To DNA Damage"1983,pp647:667-74 1983 |
| PubMed ID: 6684957 |
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| Lin PF, Slate DL, Lawyer FC, Ruddle FH, Assignment of the murine interferon sensitivity and cytoplasmic superoxide dismutase genes to chromosome 16. Science209:285-7 1980 |
| PubMed ID: 6155698 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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