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 |
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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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Race
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White
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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 |
5 |
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| REVERSE TRANSCRIPTASE |
Srivastava et al (Mech Ageing Dev 51:133-138, 1990) reported that they were unable to detect reverse transcriptase-like activity in this cell culture. |
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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 |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 1 |
frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
468_469delAA |
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| Gene |
XPA |
| Chromosomal Location |
9q22.3-q31 |
| Allelic Variant 2 |
frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A |
| Identified Mutation |
468_469delAA |
| Remarks |
De Sanctis-Cacchione; XP4LO; 2% of normal UV induced unscheduled DNA synthesis; donor subject is homozygous for a 2 bp deletion (468_469delAA) in exon 4 of the XPA gene. |
| 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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| Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J, et al, Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet56(1):167-74 1995 |
| PubMed ID: 7825573 |
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| Lu X, Lane DP, Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? Cell75:765-78 1993 |
| PubMed ID: 8242748 |
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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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| Mirzayans R, Paterson MC, Dose-dependent increase in repair of
1-beta-D-arabinofuranosylcytosine-detectable DNA lesions in UV-treated xeroderma
pigmentosum (group A) fibroblasts. Mutat Res262(3):151-7 1991 |
| PubMed ID: 2002813 |
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| Goldstein S, Jones RA, Hardin JW, Braunstein GD, Shmookler Reis RJ, Expression of alpha- and beta-human chorionic gonadotropin subunits in cultured human cells. In Vitro Cell Dev Biol26:857-64 1990 |
| PubMed ID: 1699921 |
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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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| Srivastava A, Shmookler Reis RJ, Goldstein S, Absence of reverse transcriptase activity in human diploid fibroblasts. Mech Ageing Dev51:133-8 1990 |
| PubMed ID: 1689785 |
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| Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989 |
| PubMed ID: 2478446 |
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| Mirzayans R, Paterson MC, Waters R, Defective repair of a class of 4NQO-induced alkali-labile DNA lesions in xeroderma pigmentosum complementation group A fibroblasts. Carcinogenesis6:555-9 1985 |
| PubMed ID: 3921271 |
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| Boorstein RJ, Pardee AB, Factors modifying 3-aminobenzamide cytotoxicity in normal and repair- deficient human fibroblasts. J Cell Physiol120:335-44 1984 |
| PubMed ID: 6746752 |
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| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
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| Boorstein R, Campisi J, Pardee AB, The study of DNA-repair defects using [125I]iododeoxycytidine incorporation as an assay for the growth of herpes simplex virus. Mutat Res112:85-95 1983 |
| PubMed ID: 6300669 |
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| Campisi J, Hafner J, Boorstein R, Pardee AB, Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: 125I-iododeoxycytidine incorporation as an assay for viral growth. J Cell Physiol114:21-8 1983 |
| PubMed ID: 6826658 |
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| Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983 |
| PubMed ID: 6196782 |
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| Thielmann HW, Fischer E, Dzarlieva RT, Komitowski D, Popanda O, Edler L, Spontaneous in vitro malignant transformation in a xeroderma pigmentosum fibroblast line. Int J Cancer31:687-700 1983 |
| PubMed ID: 6862680 |
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| Squires S, Johnson RT, Collins AR, Initial rates of DNA incision in UV-irradiated human cells: differences between normal, xeroderma pigmentosum and tumour cells. Mutat Res95:389-404 1982 |
| PubMed ID: 7121492 |
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| Cleaver JE, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981 |
| PubMed ID: 7252263 |
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| Kaufmann WK, Cleaver JE, Mechanisms of inhibition of DNA replication by ultraviolet light in normal human and xeroderma pigmentosum fibroblasts. J Mol Biol149:171-87 1981 |
| PubMed ID: 7310880 |
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| Brown WT, Ford JP, Gershey EL, Variation of DNA repair capacity in progenia cells unrelated to growth conditions. Biochem Biophys Res Commun97:347-53 1980 |
| PubMed ID: 7458939 |
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| Doniger J, Barrett SF, Robbins JH, Human fibroblast strain with normal survival but abnormal postreplication repair after ultraviolet light irradiation. Cancer Res40:2736-9 1980 |
| PubMed ID: 7388823 |
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| Gupta RS, Goldstein S, Diphtheria toxin resistance in human fibroblast cell strains from normal and cancer-prone individuals. Mutat Res73:331-8 1980 |
| PubMed ID: 7464842 |
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| Kraemer KH, Buchanan JK, Stinson SF, Semiautomated autoradiographic measurement of DNA repair in normal and xeroderma pigmentosum cultured human fibroblasts. In Vitro16:609-15 1980 |
| PubMed ID: 7409831 |
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| Lehmann AR, Kirk-Bell S, Arlett CF, Harcourt SA, de Weerd-Kastelein EA, Keijzer W, Hall-Smith P, Repair of ultraviolet light damage in a variety of human fibroblast cell strains. Cancer Res37:904-10 1977 |
| PubMed ID: 837385 |
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| Kleijer WJ, Weerd-Kastelein EA de, Sluyter ML, Keijzer W, Wit J de, Bootsma D, UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res20:417-28 1973 |
| PubMed ID: 4778857 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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