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NA02252 DNA from LCL

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3

Affected:

Yes

Sex:

Female

Age:

31 YR (At Sampling)

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

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 White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP11BE; showed features of Cockayne syndrome; 37% of normal UV induced unscheduled DNA synthesis in fibroblasts; HLA type: Aw32,w24, Bw40,B12; donor subject is homozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase 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 87%.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
Gene ERCC3
Chromosomal Location 2q21
Allelic Variant 1 133510.0001; XERODERMA PIGMENTOSUM, TYPE B
Identified Mutation SPLICE ACCEPTOR C>A, FS; The specific mutation in the sole patient with type B xeroderma pigmentosum identified to that time was found by Weeda et al. [Cell 62: 777-791 (1990)] to be a C-to-A transversion in the splice acceptor sequence of the last intron of the only ERCC3 allele that was detectably expressed, leading to a 4-bp (GCAG) insertion in the mRNA (at position 2220) and an inactivating frameshift in the C terminus of the protein.
 
Gene ERCC3
Chromosomal Location 2q21
Allelic Variant 2 133510.0001; XERODERMA PIGMENTOSUM, TYPE B
Identified Mutation SPLICE ACCEPTOR C>A, FS; The specific mutation in the sole patient with type B xeroderma pigmentosum identified to that time was found by Weeda et al. [Cell 62: 777-791 (1990)] to be a C-to-A transversion in the splice acceptor sequence of the last intron of the only ERCC3 allele that was detectably expressed, leading to a 4-bp (GCAG) insertion in the mRNA (at position 2220) and an inactivating frameshift in the C terminus of the protein.

Phenotypic Data

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Remarks XP11BE; showed features of Cockayne syndrome; 37% of normal UV induced unscheduled DNA synthesis in fibroblasts; HLA type: Aw32,w24, Bw40,B12; donor subject is homozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene.

Publications

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Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH, Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome HUMAN MUTATION27(11):1092-103 2006
PubMed ID: 16947863
 
Weber A, Liu J, Collins I, Levens D, TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression Molecular and cellular biology25:147-61 2004
PubMed ID: 15601838
 
Kim N, Kage K, Matsuda F, Lefranc MP, Storb U, B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes. J Exp Med186:413-9 1997
PubMed ID: 9236193
 
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
 
Hwang JR, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, Hoeijmakers JHJ, Egly JM, A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J Biol Chem271:15898-904 1996
PubMed ID: 8663148
 
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
 
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
 
Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ, Bootsma D, Hoeijmakers JH, Weeda G, Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet54(2):191-200 1994
PubMed ID: 8304337
 
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
 
Biggerstaff M, Wood RD, Requirement for ERCC-1 and ERCC-3 gene products in DNA excision repair in vitro. Complementation using rodent and human cell extracts. J Biol Chem267:6879-85 1992
PubMed ID: 1551896
 
Yanagisawa J, Seki M, Ui M, Enomoto T, Alteration of a DNA-dependent ATPase activity in xeroderma pigmentosum complementation group C cells. J Biol Chem267:3585-8 1992
PubMed ID: 1310977
 
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
 
Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990
PubMed ID: 1702221
 
Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y, Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain [see comments] Nature348:73-6 1990
PubMed ID: 2234061
 
Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH, A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell62:777-91 1990
PubMed ID: 2167179
 
Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989
PubMed ID: 2918867
 
Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980
PubMed ID: 7352988
 
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

External Links

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dbSNP dbSNP ID: 10499
Gene Cards ERCC3
Gene Ontology GO:0003684 damaged DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005675 transcription factor TFIIH complex
GO:0006265 DNA topological change
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0006366 transcription from Pol II promoter
GO:0006917 induction of apoptosis
GO:0007605 perception of sound
GO:0009307 DNA restriction
GO:0015668 type III site-specific deoxyribonuclease activity
GO:0016787 hydrolase activity
GO:0043138 3' to 5' DNA helicase activity
NCBI Gene Gene ID:2071
NCBI GTR 133510 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
OMIM 133510 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Images

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