GM00544

GM00544 Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic Acid Metabolism

Class

Repair Defective and Chromosomal Instability Syndromes

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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.

Characterizations

Passage Frozen

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.

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

frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

468_469delAA

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 2

frameshift; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

468_469delAA

Phenotypic Data

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.

Publications

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

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

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

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

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

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

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

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

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

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

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

Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984

PubMed ID: 6492896

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

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

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

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

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

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

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

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

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

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

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

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

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