NA02009
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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NORTHERN EUROPEAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
278700.0003; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
5BP DEL; Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found a 5-bp deletion (C349-T353) in exon 5 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination. |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
278700.0002; XERODERMA PIGMENTOSUM, TYPE A |
| Identified Mutation |
CYS108PHE; In the patient represented by the cell line GM02009, Satokata et al. [Mutat. Res. 273: 193-202, (1992)] found compound heterozygosity for 2 mutations: a 5-bp deletion C349-T353) in exon 5 causing a frameshift that resulted in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; and a G-to-T transversion at nucleotide 323 altering the cys-108 codon (TGT) to a phe codon (TTT) that resulted in disruption of a putative zinc finger domain of the XPA protein. |
| Remarks |
XP1PD; mental and growth retardation; photosensitivity; similarly affected sib; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a 5 bp deletion (CTTAT) at nucleotides 349-353 of exon 3 which causes a frameshift that results in the replacement of the sequence leu-met-asn (amino acids 117-119) by glu-pro-leu, followed by translation termination; the second allele carries a G-to-T transversion at nucleotide 323 of exon 3 altering the Cys-108 codon (TGT) to a phe codon (TTT) that results in disruption of a putative zinc finger domain of the XPA protein [Cys108Phe (C108F)]. |
| Meeran SM, Mantena SK, Elmets CA, Katiyar SK, (-)-Epigallocatechin-3-gallate prevents photocarcinogenesis in mice through interleukin-12-dependent DNA repair Cancer research66:5512-20 2006 |
| PubMed ID: 16707481 |
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| Meeran SM, Mantena SK, Katiyar SK, Prevention of ultraviolet radiation-induced immunosuppression by (-)-epigallocatechin-3-gallate in mice is mediated through interleukin 12-dependent DNA repair Clinical cancer research : an official journal of the American Association for Cancer Research12:2272-80 2006 |
| PubMed ID: 16609044 |
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| Ratner JN, Balasubramanian B, Corden J, Warren SL, Bregman DB, Ultraviolet radiation-induced ubiquitination and proteasomal degradation of the
large subunit of RNA polymerase II. Implications for transcription-coupled DNA
repair. J Biol Chem273(9):5184-9 1998 |
| PubMed ID: 9478972 |
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| States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998 |
| PubMed ID: 9671271 |
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| Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992 |
| PubMed ID: 1372102 |
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| Satokata I, Tanaka K, Okada Y, Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. Hum Genet88:603-7 1992 |
| PubMed ID: 1339397 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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