NA04313
DNA from Fibroblast
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 |
| 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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Asian
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Ethnicity
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JAPANESE
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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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| PDL at Freeze |
4.1 |
| Passage Frozen |
22 |
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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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| Gene |
ERCC4 |
| Chromosomal Location |
16p13.3-p13.13 |
| Allelic Variant 1 |
646fsX673; XERODERMA PIGMENTOSUM, TYPE F |
| Identified Mutation |
1937delT |
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| Gene |
ERCC4 |
| Chromosomal Location |
16p13.3-p13.13 |
| Allelic Variant 2 |
T556A; XERODERMA PIGMENTOSUM, TYPE F |
| Identified Mutation |
THR556ALA |
| Remarks |
Japanese; XP2YO; mild symptoms of XP; skin cancers; 10% of normal post UV unscheduled DNA synthesis; died of bile duct cancer at age 65; see GM08437B SV40 Transformed Fibroblast; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 1937 of the ERCC4 gene (1937delT) resulting in a frameshift at codon 646 and a stop codon at 673 (646fsX673 and the second allele has an A>G transition at nucleotide 1666 (1666A>G) resulting in the substitution of alanine for threonine at codon 556 [Thr556Ala (T556A)] |
| Wang QE, Han C, Zhao R, Wani G, Zhu Q, Gong L, Battu A, Racoma I, Sharma N, Wani AA, p38 MAPK- and Akt-mediated p300 phosphorylation regulates its degradation to facilitate nucleotide excision repair Nucleic acids research41:1722-33 2012 |
| PubMed ID: 23275565 |
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| Wang QE, Zhu Q, Wani G, El-Mahdy MA, Li J, Wani AA, DNA repair factor XPC is modified by SUMO-1 and ubiquitin following UV irradiation Nucleic acids research33:4023-34 2005 |
| PubMed ID: 16030353 |
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| Wang QE, Zhu Q, Wani MA, Wani G, Chen J, Wani AA, Tumor suppressor p53 dependent recruitment of nucleotide excision repair factors XPC and TFIIH to DNA damage DNA repair2:483-99 2003 |
| PubMed ID: 12713809 |
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| Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002 |
| PubMed ID: 12034848 |
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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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| Rapic Otrin V, Kuraoka I, Nardo T, McLenigan M, Eker AP, Stefanini M, Levine
AS, Wood RD, Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. Mol Cell Biol18(6):3182-90 1998 |
| PubMed ID: 9584159 |
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| Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH, DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol107(4):647-53 1996 |
| PubMed ID: 8823375 |
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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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| Legerski RJ, Brown DB, Peterson CA, Robberson DL, Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA. Proc Natl Acad Sci U S A81:5676-9 1984 |
| PubMed ID: 6207527 |
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| Yagi T, Takebe H, Establishment by SV40 transformation and characteristics of a cell line of xeroderma pigmentosum belonging to complementation group F. Mutat Res112:59-66 1983 |
| PubMed ID: 6298614 |
| dbSNP |
dbSNP ID: 20877 |
| 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 |
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