NA08207
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Simian Virus 40
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Sample Source
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DNA from Fibroblast
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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 |
6.33 |
| Passage Frozen |
3 |
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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 |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
126340.0015; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
ARG683TRP |
| |
| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 2 |
Deletion of AA 36-61; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
78 bp deletion (106-183) |
| Remarks |
XP6BE; SV40 transformed; positive family history; neurological complications; passage 3 at CCR; karyotype is female, 78% near diploid, 22% near tetraploid, and all cells show chromosome aberrations; donor subject is a compound heterozygote for mutations in the ERCC2 gene: one allele carries a C-to-T substitution at nucleotide 2047 in the ERCC2 cDNA (2047C>T) which results in a change of Arg-683 to Trp [Arg683Trp (R683W)] and the second allele deletion of 78 nucleotides in exon 3 beginning at nucleotide 106 which results in the deltion of amino acids 36 to 61 (DEL 36_61). |
| Essawy M, Chesner L, Alshareef D, Ji S, Tretyakova N, Campbell C, Ubiquitin signaling and the proteasome drive human DNA-protein crosslink repair Nucleic acids research51:12174-12184 2023 |
| PubMed ID: 37843153 |
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| Kulcsár PI, Tálas A, Ligeti Z, Tóth E, Rakvács Z, Bartos Z, Krausz SL, Welker Á, Végi VL, Huszár K, Welker E, A cleavage rule for selection of increased-fidelity SpCas9 variants with high efficiency and no detectable off-targets Nature communications14:5746 2022 |
| PubMed ID: 37717069 |
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| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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| Mathieu N, Kaczmarek N, Rüthemann P, Luch A, Naegeli H, DNA Quality Control by a Lesion Sensor Pocket of the Xeroderma Pigmentosum Group D Helicase Subunit of TFIIH Current biology : CB23:204-12 2012 |
| PubMed ID: 23352696 |
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| Zhu Q, Wani G, Sharma N, Wani A, Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair DNA repair11:942-50 2012 |
| PubMed ID: 23083890 |
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| Stevens EV, Nishizuka S, Antony S, Reimers M, Varma S, Young L, Munson PJ, Weinstein JN, Kohn EC, Pommier Y, Predicting cisplatin and trabectedin drug sensitivity in ovarian and colon cancers Molecular cancer therapeutics7:10-8 2008 |
| PubMed ID: 18187810 |
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| Yoder K, Sarasin A, Kraemer K, McIlhatton M, Bushman F, Fishel R, The DNA repair genes XPB and XPD defend cells from retroviral infection Proceedings of the National Academy of Sciences of the United States of America103:4622-7 2006 |
| PubMed ID: 16537383 |
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| Hirano J, Wang X, Kita K, Higuchi Y, Nakanishi H, Uzawa K, Yokoe H, Tanzawa
H, Yamaura A, Yamamori H, Nakajima N, Nishikiori C, Suzuki N, Low levels of NPM gene expression in UV-sensitive human cell lines. Cancer Lett153(1-2):183-8 2000 |
| PubMed ID: 10779648 |
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| Quievryn G, Zhitkovich A, Loss of DNA-protein crosslinks from formaldehyde-exposed cells occurs through
spontaneous hydrolysis and an active repair process linked to proteosome
function. Carcinogenesis21(8):1573-80 2000 |
| PubMed ID: 10910961 |
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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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| 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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| 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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| Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett
H, Harcourt SA, Arlett CF, Lehmann AR, Xeroderma pigmentosum and trichothiodystrophy are associated with different
mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A94(16):8658-63 1997 |
| PubMed ID: 9238033 |
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| Marionnet C, Benoit A, Benhamou S, Sarasin A, Stary A, Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated
xeroderma pigmentosum and trichothiodystrophy cells. J Mol Biol252(5):550-62 1995 |
| PubMed ID: 7563073 |
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| Takayama K, Salazar EP, Lehmann A, Stefanini M, Thompson LH, Weber CA, Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone
disorder xeroderma pigmentosum group D. Cancer Res55(23):5656-63 1995 |
| PubMed ID: 7585650 |
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| Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC, Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet3:1783-8 1994 |
| PubMed ID: 7849702 |
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| Gozukara EM, Parris CN, Weber CA, Salazar EP, Seidman MM, Watkins JF, Prakash L, Kraemer KH, The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells. Cancer Res54:3837-44 1994 |
| PubMed ID: 8033104 |
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| Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992 |
| PubMed ID: 1372108 |
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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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| Protic-Sabljic M, Seetharam S, Seidman MM, Kraemer KH, An SV40-transformed xeroderma pigmentosum group D cell line: establishment,
ultraviolet sensitivity, transfection efficiency and plasmid mutation induction. Mutat Res166(3):287-94 1986 |
| PubMed ID: 3023995 |
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| 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 |
| dbSNP |
dbSNP ID: 21737 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004003 ATP-dependent DNA helicase activity |
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GO:0005515 protein binding |
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GO:0005524 ATP binding |
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GO:0005634 nucleus |
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GO:0005675 transcription factor TFIIH complex |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006366 transcription from Pol II promoter |
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GO:0006917 induction of apoptosis |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
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GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
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GO:0043139 5' to 3' DNA helicase activity |
| NCBI Gene |
Gene ID:2068 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
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XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
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XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
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XP, GROUP D; XPDC |
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XP, GROUP H, FORMERLY; XPH, FORMERLY |
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