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 |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| 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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Untransformed
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Race
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White
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Family Member
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2
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Relation to Proband
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sister
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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 |
6.27 |
| Passage Frozen |
5 |
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| REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA |
Yamaizumi et al (Mutation Res 217:135-140,1989) described the results of microinjecting a T4 endonuclease into the cytoplasm of xeroderma pigmentosum and normal cells. Microinjection of the enzyme into XP cells of complementation groups A, B, C, D, F, G, or H restored the normal level of unscheduled DNA synthesis after UV irradiation exhibiting the same dose dependency in each group. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
126340.0015; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
ARG683TRP |
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| Gene |
ERCC2 |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 2 |
126340.0015; XERODERMA PIGMENTOSUM, TYPE D |
| Identified Mutation |
ARG683TRP |
| Remarks |
De Sanctis-Cacchione; XP2NE; 30 to 50% of normal post UV unscheduled DNA synthesis; donor subject is homozygous for 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)]. |
| 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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| 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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| 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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| 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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| 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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| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
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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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| Cleaver JE, Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains. Somatic Cell Genet8:801-10 1982 |
| PubMed ID: 7163956 |
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| Kraemer KH, Buchanan JK, Stinson SF, Semiautomated autoradiographic measurement of DNA repair in normal and xeroderma pigmentosum cultured human fibroblasts. In Vitro16:609-15 1980 |
| PubMed ID: 7409831 |
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| 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 |
| dbSNP |
dbSNP ID: 18249 |
| 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 |
| Passage Frozen |
5 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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