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GM04312 Fibroblast from Skin, Unspecified

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA

Affected:

Yes

Sex:

Female

Age:

7 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 Repair Defective and Chromosomal Instability Syndromes
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Simian Virus 40
Sample Source Fibroblast from Skin, Unspecified
Race Asian
Ethnicity JAPANESE
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Severely affected; mental retardation; gait disturbance; increased chromosome breakage; < 2% of normal UV induced unscheduled DNA synthesis; T-antigen positive; donor subject is homozygous for the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene, abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms; XP20S; SV40 transformed; see GM02345 lymphoblast.

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
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 1 278700.0001; XERODERMA PIGMENTOSUM, TYPE A
Identified Mutation 3-PRIME SPLICE SITE, INTRON 3; Tanaka et al. [Nature 348: 73-76 (1990)] found that most Japanese patients with type A xeroderma pigmentosum had a G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPAC gene. Satokata et al. [Proc. Nat. Acad. Sci. 87: 9908-9912, (1990)] found that the single base substitution abolished the canonical 3-prime splice site and created 2 abnormally spliced mRNA forms. The larger form was identical with normal mRNA except for a dinucleotide deletion at the 5-prime end of exon 4. This deletion resulted in a frameshift with premature termination of translation in exon 4. The smaller form had a deletion of the entire exon 3 and the dinucleotide at the 5-prime end of exon 4. A single base substitution creates a new cleavage site for the restriction endonuclease AlwNI. Using the AlwNI RFLP, Satokata et al. [Proc. Nat. Acad. Sci. 87: 9908-9912 (1990)] found that 16 of 21 unrelated Japanese patients with XP were homozygous and 4 were heterozygous for this mutation. However, 11 Caucasians and 2 blacks with group A XP did not have this mutant allele. Kore-eda et al. [Arch. Derm. 128: 971-974 (1992)] demonstrated the usefulness of the polymerase chain reaction (PCR) followed by search for the AlwNI RFLP in the diagnosis of XPA. Cleaver et al. [Hum. Molec. Genet. 4: 1685-1687 (1995)] stated that homozygosity for a G-to-C transversion at the 3-prime acceptor site of intron III/exon IV represents 80 to 90% of Japanese patients with XPA.
 
Gene XPA
Chromosomal Location 9q22.3-q31
Allelic Variant 2 278700.0001; XERODERMA PIGMENTOSUM, TYPE A
Identified Mutation 3-PRIME SPLICE SITE, INTRON 3; Tanaka et al. [Nature 348: 73-76 (1990)] found that most Japanese patients with type A xeroderma pigmentosum had a G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPAC gene. Satokata et al. [Proc. Nat. Acad. Sci. 87: 9908-9912, (1990)] found that the single base substitution abolished the canonical 3-prime splice site and created 2 abnormally spliced mRNA forms. The larger form was identical with normal mRNA except for a dinucleotide deletion at the 5-prime end of exon 4. This deletion resulted in a frameshift with premature termination of translation in exon 4. The smaller form had a deletion of the entire exon 3 and the dinucleotide at the 5-prime end of exon 4. A single base substitution creates a new cleavage site for the restriction endonuclease AlwNI. Using the AlwNI RFLP, Satokata et al. [Proc. Nat. Acad. Sci. 87: 9908-9912 (1990)] found that 16 of 21 unrelated Japanese patients with XP were homozygous and 4 were heterozygous for this mutation. However, 11 Caucasians and 2 blacks with group A XP did not have this mutant allele. Kore-eda et al. [Arch. Derm. 128: 971-974 (1992)] demonstrated the usefulness of the polymerase chain reaction (PCR) followed by search for the AlwNI RFLP in the diagnosis of XPA. Cleaver et al. [Hum. Molec. Genet. 4: 1685-1687 (1995)] stated that homozygosity for a G-to-C transversion at the 3-prime acceptor site of intron III/exon IV represents 80 to 90% of Japanese patients with XPA.

Phenotypic Data

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Remarks Severely affected; mental retardation; gait disturbance; increased chromosome breakage; < 2% of normal UV induced unscheduled DNA synthesis; T-antigen positive; donor subject is homozygous for the G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene, abolishing the canonical 3-prime splice site and creating two abnormally spliced mRNA forms; XP20S; SV40 transformed; see GM02345 lymphoblast.

Publications

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Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024
PubMed ID: 38894680
 
Sarmini L, Meabed M, Emmanouil E, Atsaves G, Robeska E, Karwowski BT, Campalans A, Gimisis T, Khobta A, Requirement of transcription-coupled nucleotide excision repair for the removal of a specific type of oxidatively induced DNA damage Nucleic acids research: 2023
PubMed ID: 37026475
 
Kitsera N, Rodriguez-Alvarez M, Emmert S, Carell T, Khobta A, Nucleotide excision repair of abasic DNA lesions Nucleic acids research: 2019
PubMed ID: 31226203
 
Kong YW, Dreaden EC, Morandell S, Zhou W, Dhara SS, Sriram G, Lam FC, Patterson JC, Quadir M, Dinh A, Shopsowitz KE, Varmeh S, Yilmaz ÖH, Lippard SJ, Reinhardt HC, Hemann MT, Hammond PT, Yaffe MB, Enhancing chemotherapy response through augmented synthetic lethality by co-targeting nucleotide excision repair and cell-cycle checkpoints Nature communications11:4124 2018
PubMed ID: 32807787
 
Kitsera N, Gasteiger K, Lühnsdorf B, Allgayer J, Epe B, Carell T, Khobta A, Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA PloS one9:e94405 2014
PubMed ID: 24713864
 
Enoiu M, Jiricny J, Schärer OD, Repair of cisplatin-induced DNA interstrand crosslinks by a replication-independent pathway involving transcription-coupled repair and translesion synthesis Nucleic acids research40:8953-64 2012
PubMed ID: 22810206
 
Jowsey PA, Williams FM, Blain PG, DNA damage responses in cells exposed to sulphur mustard Toxicology letters209:1-10 2011
PubMed ID: 22119920
 
Pathania S, Nguyen J, Hill SJ, Scully R, Adelmant GO, Marto JA, Feunteun J, Livingston DM, BRCA1 Is Required for Postreplication Repair after UV-Induced DNA Damage Molecular cell44:235-51 2010
PubMed ID: 21963239
 
Stevens EV, Nishizuka S, Antony S, Reimers M, Varma S, Young L, Munson PJ, Weinstein JN, Kohn EC, Pommier Y, Predicting cisplatin and trabectedin drug sensitivity in ovarian and colon cancers Molecular cancer therapeutics7:10-8 2008
PubMed ID: 18187810
 
Yoder K, Sarasin A, Kraemer K, McIlhatton M, Bushman F, Fishel R, The DNA repair genes XPB and XPD defend cells from retroviral infection Proceedings of the National Academy of Sciences of the United States of America103:4622-7 2006
PubMed ID: 16537383
 
Albertella MR, Green CM, Lehmann AR, O'Connor MJ, A role for polymerase eta in the cellular tolerance to cisplatin-induced damage Cancer research65:9799-806 2005
PubMed ID: 16267001
 
Camenisch U, Dip R, Schumacher SB, Schuler B, Naegeli H, Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair Nature structural & molecular biology13:278-84 2005
PubMed ID: 16491090
 
Krzesniak M, Butkiewicz D, Samojedny A, Chorazy M, Rusin M, Polymorphisms in TDG and MGMT genes - epidemiological and functional study in lung cancer patients from Poland Annals of human genetics68:300-12 2004
PubMed ID: 15225156
 
Muheim-Lenz R, Buterin T, Marra G, Naegeli H, Short-patch correction of C/C mismatches in human cells Nucleic acids research32:6696-705 2004
PubMed ID: 15613598
 
Reynolds M, Peterson E, Quievryn G, Zhitkovich A, Human Nucleotide Excision Repair Efficiently Removes Chromium-DNA Phosphate Adducts and Protects Cells against Chromate Toxicity. J Biol Chem279(29):30419-24 2004
PubMed ID: 15087443
 
Muheim R, Buterin T, Colgate KC, Kolbanovsij A, Geacintov NE, Naegeli H, Modulation of human nucleotide excision repair by 5-methylcytosines. Biochemistry42(11):3247-54 2003
PubMed ID: 12641456
 
Morelli C, Karayianni E, Magnanini C, Mungall AJ, Thorland E, Negrini M, Smith DI, Barbanti-Brodano G, Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors Oncogene21:7266-76 2002
PubMed ID: 12370818
 
Hirano J, Wang X, Kita K, Higuchi Y, Nakanishi H, Uzawa K, Yokoe H, Tanzawa H, Yamaura A, Yamamori H, Nakajima N, Nishikiori C, Suzuki N, Low levels of NPM gene expression in UV-sensitive human cell lines. Cancer Lett153(1-2):183-8 2000
PubMed ID: 10779648
 
Quievryn G, Zhitkovich A, Loss of DNA-protein crosslinks from formaldehyde-exposed cells occurs through spontaneous hydrolysis and an active repair process linked to proteosome function. Carcinogenesis21(8):1573-80 2000
PubMed ID: 10910961
 
Prince PR, Ogburn CE, Moser MJ, Emond MJ, Martin GM, Monnat RJ Jr, Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines. Hum Genet105:132-8 1999
PubMed ID: 10480367
 
States JC, Myrand SP, Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. Mutat Res363:171-7 1996
PubMed ID: 8765158
 
Yoon YS, Kim JW, Kang KW, Kim YS, Choi KH, Joe CO, Poly(ADP-ribosyl)ation of histone H1 correlates with internucleosomal DNA fragmentation during apoptosis. J Biol Chem271:9129-34 1996
PubMed ID: 8621564
 
Li L, Peterson CA, Lu X, Legerski RJ, Mutations in XPA that prevent association with ERCC1 are defective in nucleotide excision repair. Mol Cell Biol15:1993-8 1995
PubMed ID: 7891694
 
Luethy JD, Holbrook NJ, Activation of the gadd153 promoter by genotoxic agents: a rapid and specific response to DNA damage. Cancer Res52:5-10 1992
PubMed ID: 1727386
 
Saito H, Moses RE, Immortalization of Werner syndrome and progeria fibroblasts Experimental cell research192:373-9 1991
PubMed ID: 1671011
 
Sun Y, Moses RE, Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. Somat Cell Mol Genet17:229-38 1991
PubMed ID: 2047939
 
Rinaldy A, Bellew T, Egli E, Lloyd RS, Increased UV resistance in xeroderma pigmentosum group A cells after transformation with a human genomic DNA clone. Proc Natl Acad Sci U S A87:6818-22 1990
PubMed ID: 2168562
 
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
 
Wood CM, Moses RE, Ethyl methane sulfonate- and bleomycin-generated deletion mutations at HPRT locus in xeroderma pigmentosum complementation group D fibroblasts. Somat Cell Mol Genet15:345-57 1989
PubMed ID: 2474861
 
Wood CM, Timme TL, Hurt MM, Brinkley BR, Ledbetter DH, Moses RE, Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. Exp Cell Res169:543-53 1987
PubMed ID: 3030788
 
Barbis DP, Schultz RA, Friedberg EC, Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum. Mutat Res165:175-84 1986
PubMed ID: 3010096
 
Protic-Sabljic M, Kraemer KH, Host cell reactivation by human cells of DNA expression vectors damaged by ultraviolet radiation or by acid-heat treatment. Carcinogenesis7:1765-70 1986
PubMed ID: 3463438
 
Colbere-Garapin F, Horaud F, Kourilsky P, Garapin A, Comparative expression of the hepatitis B surface antigen gene in biochemically transformed human, simian and murine cells. J Gen Virol66 ( Pt 8):1741-52 1985
PubMed ID: 2991437
 
Kuhnlein U, Comparison of apurinic DNA-binding protein from an ataxia telangiectasia and a HeLa cell line. Evidence for an altered processing of apurinic/apyrimidinic endonuclease. J Biol Chem260:14918-24 1985
PubMed ID: 2415510
 
Protic-Sabljic M, Kraemer KH, One pyrimidine dimer inactivates expression of a transfected gene in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A82:6622-6 1985
PubMed ID: 2995975
 
Protic-Sabljic M, Whyte D, Fagan J, Howard BH, Gorman CM, Padmanabhan R, Kraemer KH, Quantification of expression of linked cloned genes in a simian virus 40-transformed xeroderma pigmentosum cell line. Mol Cell Biol5:1685-93 1985
PubMed ID: 2991746
 
Schultz RA, Barbis DP, Friedberg EC, Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. Somat Cell Mol Genet11:617-24 1985
PubMed ID: 3000003
 
Gantt R, Taylor WG, Camalier RF, Stephens EV, Repair of DNA-protein cross-links in an excision repair-deficient human cell line and its simian virus 40-transformed derivative. Cancer Res44:1809-12 1984
PubMed ID: 6324989
 
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
 
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
 
Takano T, Noda M, Tamura T, Transfection of cells from a xeroderma pigmentosum patient with normal human DNA confers UV resistance. Nature296:269-70 1982
PubMed ID: 7063029
 
Takebe H, Miki Y, Kozuka T, Furuyama JI, Tanaka K, DNA repair characteristics and skin cancers of xeroderma pigmentosum patients in Japan. Cancer Res37:490-5 1977
PubMed ID: 832273
 
Takebe H, Nii S, Ishii MI, Utsumi H, Comparative studies of host-cell reactivation, colony forming ability and excision repair after UV irradiation of xeroderma pigmentosum, normal human and some other mammalian cells. Mutat Res25:383-90 1974
PubMed ID: 4373650

External Links

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dbSNP dbSNP ID: 18850
Gene Cards XPA
Gene Ontology GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7507
NCBI GTR 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
OMIM 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
611153 XPA GENE; XPA
Omim Description XERODERMA PIGMENTOSUM I; XP1
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
  XP, GROUP A
  XPA COMPLEMENTING; XPAC
  XPA CORRECTING

Culture Protocols

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Split Ratio 1:8
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 10% fetal bovine serum Not inactivated
Substrate None specified
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