NA03542

NA03542 DNA from Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4

Affected:

Yes

Sex:

Male

Age:

29 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

Quantity

10 µg

Quantitation Method

Please see our FAQ

Cell Type

Fibroblast

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

Asian

Ethnicity

JAPANESE

Family Member

Relation to Proband

great nephew

Confirmation

Biochemical characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Japanese; XP3YO; 10% of normal post UV unscheduled DNA synthesis; no neurological abnormalities; son of a niece of XP2YO; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1436 of the ERCC4 gene (1436G>A) resulting in the substitution of glutamine for arginine at codon 479 [Arg479Gln (R479Q)] and the second allele has a T>C transition at nucleotide 1790 (1790T>C) resulting in the substitution of proline for leucine at codon 599 [Leu599Pro (L599P)]

Characterizations

PDL at Freeze

5.83

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

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.

REPAIR OF UV- OR X RAY-IRRADIATED DNA OR ALKYLATED DNA

Yamaizumi et al (Mutation Res 217:135-140,1989) described the results of microinjecting a T4 endonuclease into the cytoplasm of xeroderma pigmentosum and normal cells. Microinjection of the enzyme into XP cells of complementation groups A, B, C, D, F, G, or H restored the normal level of unscheduled DNA synthesis after UV irradiation exhibiting the same dose dependency in each group.

Gene

ERCC4

Chromosomal Location

16p13.3-p13.13

Allelic Variant 1

R479Q; XERODERMA PIGMENTOSUM, TYPE F

Identified Mutation

ARG479GLN

Gene

ERCC4

Chromosomal Location

16p13.3-p13.13

Allelic Variant 2

L599P; XERODERMA PIGMENTOSUM, TYPE F

Identified Mutation

LEU599PRO

Phenotypic Data

Remarks

Publications

Wang D, Yang H, Zhou Z, Zhao M, Chen R, Reed SH, XPF plays an indispensable role in relieving silver nanoparticle induced DNA damage stress in human cells Toxicology letters288:44-54 2017

PubMed ID: 29462690

Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999

PubMed ID: 10447254

Matsumura Y, Nishigori C, Yagi T, Imamura S, Takebe H, Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. Hum Mol Genet7(6):969-74 1998

PubMed ID: 9580660

Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C, Blankenship J, Collins C, Giorgi D, Iadonato S, Johnson F, Kuo WL, Massa H, Morrish T, Naylor S, Nguyen OT, Rouquier S, Smith T, Wong DJ, Youngblom J, van den Engh G, Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet7:13-26 1998

PubMed ID: 9384599

Galloway AM, Liuzzi M, Paterson MC, Metabolic processing of cyclobutyl pyrimidine dimers and (6-4) photoproducts in UV-treated human cells. Evidence for distinct excision-repair pathways. J Biol Chem269:974-80 1994

PubMed ID: 8288650

Evans MK, Robbins JH, Ganges MB, Tarone RE, Nairn RS, Bohr VA, Gene-specific DNA repair in xeroderma pigmentosum complementation groups A, C, D, and F. Relation to cellular survival and clinical features. J Biol Chem268:4839-47 1993

PubMed ID: 8444862

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

Yamaizumi M, Inaoka T, Uchida T, Ohtsuka E, Microinjection of T4 endonuclease V produced by a synthetic denV gene stimulates unscheduled DNA synthesis in both xeroderma pigmentosum and normal cells. Mutat Res217:135-40 1989

PubMed ID: 2918866

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

Fendrick JL, Hallick LM, Psoralen photoinactivation of herpes simplex virus: monoadduct and cross-link repair by xeroderma pigmentosum and Fanconi's anemia cells. J Invest Dermatol83:96s-101s 1984

PubMed ID: 6330231

Hayakawa H, Ishizaki K, Inoue M, Yagi T, Sekiguchi M, Takebe H, Repair of ultraviolet radiation damage in xeroderma pigmentosum cells belonging to complementation group F. Mutat Res80:381-8 1981

PubMed ID: 7207491