Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
|
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
|
|
| 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 63%. |
| |
| DNA LIGASE I AND II |
Willis et al (Carcinogenesis 10:217-219,1989) reported normal DNA ligase I activity with normal heat stability in extracts of this lymphoblast culture. |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Remarks |
XP7BE; 25-50% of normal UV induced unscheduled DNA synthesis in fibroblasts; same patient as GM02590; 46,XX |
| Kennedy DO, Agrawal M, Shen J, Terry MB, Zhang FF, Senie RT, Motykiewicz G, Santella RM, DNA repair capacity of lymphoblastoid cell lines from sisters discordant for breast cancer Journal of the National Cancer Institute97:127-32 2005 |
| PubMed ID: 15657342 |
| |
| O'Driscoll M, Macpherson P, Xu YZ, Karran P, The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells. Carcinogenesis20:1855-62 1999 |
| PubMed ID: 10469634 |
| |
| 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 |
| |
| Kim J, Chubatsu LS, Admon A, Stahl J, Fellous R, Linn S, Implication of mammalian ribosomal protein S3 in the processing of DNA damage. J Biol Chem270:13620-9 1995 |
| PubMed ID: 7775413 |
| |
| Vilpo JA, Vilpo LM, Szymkowski DE, O'Donovan A, Wood RD, An XPG DNA repair defect causing mutagen hypersensitivity in mouse leukemia L1210 cells. Mol Cell Biol15:290-7 1995 |
| PubMed ID: 7799936 |
| |
| Park CH, Sancar A, Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins. Proc Natl Acad Sci U S A91:5017-21 1994 |
| PubMed ID: 8197175 |
| |
| Hsu, Cytogenetic studies on the in vitro genotoxicity of 4-nitroquinoline-1-oxide on human lymphocytes. Int J Oncol3:823 (1993):5017-21 1993 |
| PubMed ID: 8197175 |
| |
| 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 |
| |
| 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 |
| |
| Zhukovskaya N, Rydberg B, Karran P, Inactive O6-methylguanine-DNA methyltransferase in human cells. Nucleic Acids Res20:6081-90 1992 |
| PubMed ID: 1461738 |
| |
| 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 |
| |
| Teitz T, Eli D, Penner M, Bakhanashvili M, Naiman T, Timme TL, Wood CM, Moses RE, Canaani D, Expression of the cDNA for the beta subunit of human casein kinase II confers partial UV resistance on xeroderma pigmentosum cells. Mutat Res236:85-97 1990 |
| PubMed ID: 1694965 |
| |
| 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, Spurr NK, Lindahl T, Concomitant reversion of the characteristic phenotypic properties of a cell line of Bloom's syndrome origin. Carcinogenesis10:217-9 1989 |
| PubMed ID: 2910526 |
| |
| Protic-Sabljic M, Whyte DB, Kraemer KH, Hypersensitivity of xeroderma pigmentosum cells to dietary carcinogens. Mutat Res145:89-94 1985 |
| PubMed ID: 3974607 |
| |
| Simon L, Hazard RM, Maher VM, McCormick JJ, Enhanced cell killing and mutagenesis by ethylnitrosourea in xeroderma pigmentosum cells. Carcinogenesis2:567-70 1981 |
| PubMed ID: 7273335 |
| |
| Kuhnlein U, Lee B, Penhoet EE, Linn S, Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA
endonuclease species with a low apparent Km. Nucleic Acids Res5(3):951-60 1978 |
| PubMed ID: 643622 |
| |
| 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: 10523 |
| NCBI GTR |
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
| |
XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
| |
XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
| |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| |
XP, GROUP D; XPDC |
| |
XP, GROUP H, FORMERLY; XPH, FORMERLY |
|
|