GM04313

GM04313 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

64 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

Asian

Ethnicity

JAPANESE

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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)]

Characterizations

PDL at Freeze

4.1

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.

Gene

ERCC4

Chromosomal Location

16p13.3-p13.13

Allelic Variant 1

646fsX673; XERODERMA PIGMENTOSUM, TYPE F

Identified Mutation

1937delT

Gene

ERCC4

Chromosomal Location

16p13.3-p13.13

Allelic Variant 2

T556A; XERODERMA PIGMENTOSUM, TYPE F

Identified Mutation

THR556ALA

Phenotypic Data

Remarks

Publications

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

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

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

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

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

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

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

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

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

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