GM02096

GM02096 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC

Affected:

Yes

Sex:

Female

Age:

15 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

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

arr 1q24.1q32.1(165741530-199272729)x1,15q11.1q11.2(20541967-22311799)x1

Species

Homo sapiens

Common Name

Human

Remarks

De Sanctis-Cacchione; lupus erythematosus; see GM02634 (lymphoblastoid); XP1MI; 46,XX; low level of UV induced unscheduled DNA synthesis; XP-associated neurologic abnormalities, a rarity in group C; the donor subject carries a point mutation that converts the proline at position 218 to histidine [Pro218His (P218H)]. The cell line is either homozygous or hemizygous for this mutation.

Characterizations

PDL at Freeze

5.74

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

613208.0001; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

PRO218HIS; In cell line XP1MI, Li et al. [Nature Genet. 5: 413-417, (1993)] found, by complete sequencing of the 2,472 bp coding sequence of the XPC gene, a point mutation that converted proline at position 218 to histidine. The finding suggested that the cell line was either homozygous or hemizygous for this mutation. The XP1MI cell line was the most UV-sensitive of the five cell lines analyzed by Li et al. [Nature Genet. 5: 413-417, (1993)]. Furthermore, the patient demonstrated XP-associated neurologic abnormalities, a rarity in group C.

Phenotypic Data

Remarks

Publications

Bidon B1,2,3,4, Iltis I1,2,3,4, Semer M1,2,3,4, Nagy Z1,2,3,4, Larnicol A1,2,3,4, Cribier A5, Benkirane M5, Coin F6,7,8,9, Egly JM10,11,12,13, Le May N14,15,16,17., XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1 Nature Communications9: 2018

PubMed ID: 29973595

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

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Ray A, Milum K, Battu A, Wani G, Wani AA, NER initiation factors, DDB2 and XPC, regulate UV radiation response by recruiting ATR and ATM kinases to DNA damage sites DNA repair3:1143-9 2012

PubMed ID: 23422745

Cartault F, Nava C, Malbrunot AC, Munier P, Hebert JC, N'guyen P, Djeridi N, Pariaud P, Pariaud J, Dupuy A, Austerlitz F, Sarasin A, A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients DNA repair10:577-85 2011

PubMed ID: 21482201

Jeyapalan JN, Varley H, Foxon JL, Pollock RE, Jeffreys AJ, Henson JD, Reddel RR, Royle NJ, Activation of the ALT pathway for telomere maintenance can affect other sequences in the human genome. Hum Mol Genet14(13):1785-94 2005

PubMed ID: 15888482

Wang G, Chuang L, Zhang X, Colton S, Dombkowski A, Reiners J, Diakiw A, Xu XS, The initiative role of XPC protein in cisplatin DNA damaging treatment-mediated cell cycle regulation. Nucleic Acids Res32(7):2231-40 2004

PubMed ID: 15107491

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

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

Perelman B, Dafni N, Naiman T, Eli D, Yaakov M, Feng TL, Sinha S, Weber G, Khodaei S, Sancar A, Dotan I, Canaani D, Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus. Genomics41:397-405 1997

PubMed ID: 9169138

Canaani D, Naiman T, Teitz T, Berg P, Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA having a defective origin of DNA replication. Somat Cell Mol Genet12:13-20 1986

PubMed ID: 3003928

Karentz D, Cleaver JE, Excision repair in xeroderma pigmentosum group C but not group D is clustered in a small fraction of the total genome. Mutat Res165:165-74 1986

PubMed ID: 3084965

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

PubMed ID: 6492896

Cleaver JE, Charles WC, Kong SH, Efficiency of repair of pyrimidine dimers and psoralen monoadducts in normal and xeroderma pigmentosum human cells. Photochem Photobiol40:621-9 1984

PubMed ID: 6514810

Robbins JH, Polinsky RJ, Moshell AN, Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum. Ann Neurol13:682-4 1983

PubMed ID: 6881931

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

Hananian J, Cleaver JE, Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Clin Genet17:39-45 1980

PubMed ID: 7389185