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GM02449 LCL from B-Lymphocyte

Description:

XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
POLYMERASE, DNA, ETA; POLH

Affected:

Yes

Sex:

Male

Age:

30 YR (At Sampling)

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

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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks XPPHBE; variant type; 46,XY; 8% of cells show random chromosome loss, 2% show random gain; normal DNA ligase I and II activity; lymphoblasts synthesize low molecular weight DNA after UV exposure; donor subject has one allele with an insertion of G at nucleotide 1078 of the POLH gene (1078insG) resulting in a frameshift terminating at Asn359 (Asn359fs); the second allele is as yet unidentified

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 and by Chromosome Analysis
 
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 67%.
 
DNA LIGASE I AND II Normal DNA ligase I & II enzyme activities (Willis et al. Proc Natl Acad Sci USA 84:8016-8020,1987).
 
Gene POLH
Chromosomal Location 6p21.1-p12
Allelic Variant 1 Asn359fs; XERODERMA PIGMENTOSUM, VARIANT TYPE
Identified Mutation 1078insG

Phenotypic Data

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Remarks XPPHBE; variant type; 46,XY; 8% of cells show random chromosome loss, 2% show random gain; normal DNA ligase I and II activity; lymphoblasts synthesize low molecular weight DNA after UV exposure; donor subject has one allele with an insertion of G at nucleotide 1078 of the POLH gene (1078insG) resulting in a frameshift terminating at Asn359 (Asn359fs); the second allele is as yet unidentified

Publications

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Johnson RE, Kondratick CM, Prakash S, Prakash L, hRAD30 mutations in the variant form of xeroderma pigmentosum. Science285(5425): 1999
PubMed ID: 10398605
 
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, Mu D, Sancar A, Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease. J Biol Chem271:19451-6 1996
PubMed ID: 8702634
 
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
 
Clepet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN, The human SRY transcript. Hum Mol Genet2:2007-12 1993
PubMed ID: 8111368
 
Hansson J, Keyse SM, Lindahl T, Wood RD, DNA excision repair in cell extracts from human cell lines exhibiting hypersensitivity to DNA-damaging agents. Cancer Res51:3384-90 1991
PubMed ID: 2054778
 
Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989
PubMed ID: 2918867
 
Willis, Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA84:8016 (1987):141-51 1987
PubMed ID: 2918867
 
Ramsay RG, Chen P, Imray FP, Kidson C, Lavin MF, Hockey A, Familial melanoma associated with dominant ultraviolet radiation sensitivity. Cancer Res42:2909-12 1982
PubMed ID: 7083179
 
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

External Links

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dbSNP dbSNP ID: 21001
Gene Cards POLH
Gene Ontology GO:0003684 damaged DNA binding
GO:0005654 nucleoplasm
GO:0006282 regulation of DNA repair
GO:0015999 eta DNA polymerase activity
NCBI Gene Gene ID:5429
NCBI GTR 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
603968 POLYMERASE, DNA, ETA; POLH
OMIM 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
603968 POLYMERASE, DNA, ETA; POLH
Omim Description PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
  XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES
  XERODERMA PIGMENTOSUM, VARIANT TYPE

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
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