Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4
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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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Asian
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Ethnicity
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JAPANESE
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Family Member
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2
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Relation to Proband
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great nephew
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Confirmation
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Biochemical characterization after cell line submission to CCR
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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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| PDL at Freeze |
5.83 |
| Passage Frozen |
12 |
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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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| 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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| 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. |
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| Gene |
ERCC4 |
| Chromosomal Location |
16p13.3-p13.13 |
| Allelic Variant 1 |
R479Q; XERODERMA PIGMENTOSUM, TYPE F |
| Identified Mutation |
ARG479GLN |
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| Gene |
ERCC4 |
| Chromosomal Location |
16p13.3-p13.13 |
| Allelic Variant 2 |
L599P; XERODERMA PIGMENTOSUM, TYPE F |
| Identified Mutation |
LEU599PRO |
| 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)] |
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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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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| 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 |
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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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| 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 |
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| 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 |
| dbSNP |
dbSNP ID: 10669 |
| Gene Cards |
ERCC4 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004520 endodeoxyribonuclease activity |
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GO:0005634 nucleus |
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GO:0006289 nucleotide-excision repair |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:2072 |
| NCBI GTR |
133520 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4 |
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278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF |
| OMIM |
133520 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4 |
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278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF |
| Omim Description |
XERODERMA PIGMENTOSUM VI; XP6 |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF |
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XP, GROUP F |
| Cumulative PDL at Freeze |
5.83 |
| Passage Frozen |
12 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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