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NA02253 DNA from LCL

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD

Affected:

Yes

Sex:

Male

Age:

14 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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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 Black/African American
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP17BE; 25% of normal UV induced unscheduled DNA synthesis in fibroblasts; 46,XY; shows no increase above normals for chemical clastogen induced chromosome breakage; typical skin and neurologic abnormalities; onset at about age 10

Characterizations

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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
 
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 54%.
 
MEX PHENOTYPES Sklar and Strauss (NATURE 289:417-420,1981) assigned this culture a mex+ phenotype based upon its ability to remove O6-MeG from alkylated DNA.
 

Phenotypic Data

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Remarks XP17BE; 25% of normal UV induced unscheduled DNA synthesis in fibroblasts; 46,XY; shows no increase above normals for chemical clastogen induced chromosome breakage; typical skin and neurologic abnormalities; onset at about age 10

Publications

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Matta J, Ortiz-Sánchez C, Encarnación-Medina J, Torres-Caraballo S, Oliveras J, Park J, Arroyo MM, Ruiz-Deya G, DNA Repair Capacity and Clinicopathological Characteristics in Puerto Rican Hispanic/Latino Patients with Metastatic Castration-Resistant Prostate Cancer Cancers17: 2024
PubMed ID: 39858060
 
Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005
PubMed ID: 16251457
 
Seker H, Butkiewicz D, Bowman ED, Rusin M, Hedayati M, Grossman L, Harris CC, Functional significance of XPD polymorphic variants: attenuated apoptosis in human lymphoblastoid cells with the XPD 312 Asp/Asp genotype. Cancer Res61(20):7430-4 2001
PubMed ID: 11606376
 
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
 
Calsou P, Frit P, Salles B, Double strand breaks in DNA inhibit nucleotide excision repair in vitro. J Biol Chem271:27601-7 1996
PubMed ID: 8910348
 
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
 
Shivji MK, Eker AP, Wood RD, DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells. J Biol Chem269:22749-57 1994
PubMed ID: 8077226
 
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
 
Hansson J, Grossman L, Lindahl T, Wood RD, Complementation of the xeroderma pigmentosum DNA repair synthesis defect with Escherichia coli UvrABC proteins in a cell-free system. Nucleic Acids Res18:35-40 1990
PubMed ID: 2408009
 
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
 
Imray FP, Hockey A, Relf W, Ramsay RG, Kidson C, Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. J Med Genet23:72-8 1986
PubMed ID: 3950938
 
Karentz D, Cleaver JE, Excision repair in xeroderma pigmentosum group C but not group D is clustered in a small fraction of the total genome. Mutat Res165:165-74 1986
PubMed ID: 3084965
 
Protic-Sabljic M, Whyte DB, Kraemer KH, Hypersensitivity of xeroderma pigmentosum cells to dietary carcinogens. Mutat Res145:89-94 1985
PubMed ID: 3974607
 
Cohen MM, Simpson SJ, Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells. Mutat Res112:119-28 1983
PubMed ID: 6188042
 
Cohen MM, Fruchtman CE, Simpson SJ, Martin AO, The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. Cytogenet Cell Genet34:230-40 1982
PubMed ID: 6183057
 
Cohen MM, Simpson SJ, Pazos L, Specificity of bleomycin-induced cytotoxic effects on ataxia telangiectasia lymphoid cell lines. Cancer Res41:1817-23 1981
PubMed ID: 6163529
 
Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH, A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro17:299-307 1981
PubMed ID: 6263790
 
Sklar R, Strauss B, Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines. Nature289:417-20 1981
PubMed ID: 7464910
 
Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980
PubMed ID: 7352988
 
Moshell AN, Tarone RE, Barrett SF, Robbins JH, Radiosensitivity in Huntington's disease: implications for pathogenesis and presymptomatic diagnosis. Lancet1:9-11 1980
PubMed ID: 6101401

External Links

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dbSNP dbSNP ID: 10500
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
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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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