NA03021
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
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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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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 |
1.47 |
| Passage Frozen |
11 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 1 |
133530.0008; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
| Identified Mutation |
c.2573T>C (p.Leu858Pro) |
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| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 2 |
133530.0009; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Identified Mutation |
c.1115_1118delGGAA (p.Arg372Thrfs*5) |
| Remarks |
XP2BI; neurological abnormalities clinically well manifested at age 11; acute sun sensitivity; fibroblasts show no unscheduled DNA synthesis following exposure to UV irradiation |
| Matsumoto M, Yaginuma K, Igarashi A, Imura M, Hasegawa M, Iwabuchi K, Date T, Mori T, Ishizaki K, Yamashita K, Inobe M, Matsunaga T, Perturbed gap-filling synthesis in nucleotide excision repair causes histone H2AX phosphorylation in human quiescent cells Journal of cell science120:1104-12 2007 |
| PubMed ID: 17327276 |
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| Wang QE, Zhu Q, Wani G, El-Mahdy MA, Li J, Wani AA, DNA repair factor XPC is modified by SUMO-1 and ubiquitin following UV irradiation Nucleic acids research33:4023-34 2005 |
| PubMed ID: 16030353 |
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| Wang QE, Zhu Q, Wani MA, Wani G, Chen J, Wani AA, Tumor suppressor p53 dependent recruitment of nucleotide excision repair factors XPC and TFIIH to DNA damage DNA repair2:483-99 2003 |
| PubMed ID: 12713809 |
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| Rubbi CP, Milner J, Analysis of nucleotide excision repair by detection of single-stranded DNA transients. Carcinogenesis22(11):1789-96 2001 |
| PubMed ID: 11698340 |
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| Faruqi AF, Datta HJ, Carroll D, Seidman MM, Glazer PM, Triple-helix formation induces recombination in mammalian cells via a nucleotide excision repair-dependent pathway. Mol Cell Biol20:990-1000 2000 |
| PubMed ID: 10629056 |
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| Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and
CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000 |
| PubMed ID: 10786832 |
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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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| Ratner JN, Balasubramanian B, Corden J, Warren SL, Bregman DB, Ultraviolet radiation-induced ubiquitination and proteasomal degradation of the
large subunit of RNA polymerase II. Implications for transcription-coupled DNA
repair. J Biol Chem273(9):5184-9 1998 |
| PubMed ID: 9478972 |
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| Abramova NA, Russell J, Botchan M, Li R, Interaction between replication protein A and p53 is disrupted after UV damage in a DNA repair-dependent manner. Proc Natl Acad Sci U S A94:7186-91 1997 |
| PubMed ID: 9207066 |
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| Reardon JT, Bessho T, Kung HC, Bolton PH, Sancar A, In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients. Proc Natl Acad Sci U S A94:9463-8 1997 |
| PubMed ID: 9256505 |
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| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
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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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| Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A, Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J Biol Chem270:20862-9 1995 |
| PubMed ID: 7657672 |
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| Galloway AM, Liuzzi M, Paterson MC, Metabolic processing of cyclobutyl pyrimidine dimers and (6-4) photoproducts in UV-treated human cells. Evidence for distinct excision-repair pathways. J Biol Chem269:974-80 1994 |
| PubMed ID: 8288650 |
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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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| Reardon JT, Thompson LH, Sancar A, Excision repair in man and the molecular basis of xeroderma pigmentosum syndrome. Cold Spring Harb Symp Quant Biol58:605-17 1993 |
| PubMed ID: 7956075 |
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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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| Yamaizumi M, Inaoka T, Uchida T, Ohtsuka E, Microinjection of T4 endonuclease V produced by a synthetic denV gene stimulates unscheduled DNA synthesis in both xeroderma pigmentosum and normal cells. Mutat Res217:135-40 1989 |
| PubMed ID: 2918866 |
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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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| Hittelman WN, Visualization of chromatin events during DNA excision repair in XP cells: deficiency in localized but not generalized chromatin events. Carcinogenesis7:1975-80 1986 |
| PubMed ID: 3022961 |
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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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| Cohn SM, Krawisz BR, Dresler SL, Lieberman MW, Induction of replicative DNA synthesis in quiescent human fibroblasts by DNA damaging agents. Proc Natl Acad Sci U S A81:4828-32 1984 |
| PubMed ID: 6589629 |
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| Fendrick JL, Hallick LM, Psoralen photoinactivation of herpes simplex virus: monoadduct and cross-link repair by xeroderma pigmentosum and Fanconi's anemia cells. J Invest Dermatol83:96s-101s 1984 |
| PubMed ID: 6330231 |
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| Legerski RJ, Brown DB, Peterson CA, Robberson DL, Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA. Proc Natl Acad Sci U S A81:5676-9 1984 |
| PubMed ID: 6207527 |
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| Dresler SL, Lieberman MW, Requirement of ATP for specific incision of ultraviolet-damaged DNA during excision repair in permeable human fibroblasts. J Biol Chem258:12269-73 1983 |
| PubMed ID: 6630188 |
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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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| Dresler SL, Roberts JD, Lieberman MW, Characterization of deoxyribonucleic acid repair synthesis in permeable human fibroblasts. Biochemistry21:2557-64 1982 |
| PubMed ID: 7093202 |
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| Barrett SF, Tarone RE, Moshell AN, Ganges MB, Robbins JH, The post-UV colony-forming ability of normal fibroblast strains and of the xeroderma pigmentosum group G strain. J Invest Dermatol76:59-62 1981 |
| PubMed ID: 7462668 |
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| Gruenert DC, Cleaver JE, Repair of ultraviolet damage in human cells also exposed to agents that cause strand breaks, crosslinks, monoadducts and alkylations. Chem Biol Interact33:163-77 1981 |
| PubMed ID: 7460065 |
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| Keijzer W, Jaspers NG, Abrahams PJ, Taylor AM, Arlett CF, Zelle B, Takebe H, Kinmont PD, Bootsma D, A seventh complementation group in excision-deficient xeroderma pigmentosum. Mutat Res62:183-90 1979 |
| PubMed ID: 492197 |
| dbSNP |
dbSNP ID: 10591 |
| Gene Cards |
ERCC5 |
| Gene Ontology |
GO:0003697 single-stranded DNA binding |
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GO:0004520 endodeoxyribonuclease activity |
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GO:0005634 nucleus |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:2073 |
| NCBI GTR |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
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278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| OMIM |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
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278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Omim Description |
XERODERMA PIGMENTOSUM VII |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
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XP, GROUP G; XPG |
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XP7 |
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