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NA01389 DNA from Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
DNA DAMAGE-BINDING PROTEIN 2; DDB2

Affected:

Yes

Sex:

Female

Age:

21 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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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 White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Diagnosed at age 16 years; complementation analysis in heterodikaryons negative when crossed with XPE (XP23PV); unscheduled DNA synthesis 60% of normal level; GM01646 is a lymphoblastoid cell line from the same individual; at the age of 53 has now reported more than 600 BCCs, SCCs and 12 melanomas by the age of 50; donor subject is a compound heterozygote: one allele carries a T>C transition at nucleotide 1224 (1224T>C) of the DDB2 gene, resulting in a missense mutation at codon 350 [Leu350Pro (L350P)]; the second allele carries a 3 bp deletion (del 1220-1222) resulting in the deletion of ASN349 (N349del).

Characterizations

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Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene DDB2
Chromosomal Location 11p12-p11
Allelic Variant 1 ; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Identified Mutation LEU350PRO
 
Gene DDB2
Chromosomal Location 11p12-p11
Allelic Variant 2 N349del; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Identified Mutation ASN349del

Phenotypic Data

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Remarks Diagnosed at age 16 years; complementation analysis in heterodikaryons negative when crossed with XPE (XP23PV); unscheduled DNA synthesis 60% of normal level; GM01646 is a lymphoblastoid cell line from the same individual; at the age of 53 has now reported more than 600 BCCs, SCCs and 12 melanomas by the age of 50; donor subject is a compound heterozygote: one allele carries a T>C transition at nucleotide 1224 (1224T>C) of the DDB2 gene, resulting in a missense mutation at codon 350 [Leu350Pro (L350P)]; the second allele carries a 3 bp deletion (del 1220-1222) resulting in the deletion of ASN349 (N349del).

Publications

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Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019
PubMed ID: 31499327
 
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
 
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 repair288:44-54 2012
PubMed ID: 23422745
 
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
 
Li J, Wang QE, Zhu Q, El-Mahdy MA, Wani G, Prætorius-Ibba M, Wani AA, DNA Damage Binding Protein Component DDB1 Participates in Nucleotide Excision Repair through DDB2 DNA-binding and Cullin 4A Ubiquitin Ligase Activity Cancer Research66:8590-8597 2006
PubMed ID: 16951172
 
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 G, Chen J, Wani AA, UV radiation-induced XPC translocation within chromatin is mediated by damaged-DNA binding protein, DDB2. Carcinogenesis25(6):1033-43 2004
PubMed ID: 14742321
 
Itoh T, O'Shea C, Linn S, Impaired regulation of tumor suppressor p53 caused by mutations in the xeroderma pigmentosum DDB2 gene: mutual regulatory interactions between p48(DDB2) and p53. Mol Cell Biol23(21):7540-53 2003
PubMed ID: 14560002
 
Rapic-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M, True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. Hum Mol Genet12(13):1507-22 2003
PubMed ID: 12812979
 
Rubbi CP, Milner J, p53 is a chromatin accessibility factor for nucleotide excision repair of DNA damage. EMBO J22(4):975-86 2003
PubMed ID: 12574133
 
Nichols AF, Itoh T, Graham JA, Liu W, Yamaizumi M, Linn S, Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation. J Biol Chem275:21422-8 2000
PubMed ID: 10777490
 
Ouellette MM, McDaniel LD, Wright WE, Shay JW, Schultz RA, The establishment of telomerase-immortalized cell lines representing human chromosome instability syndromes. Hum Mol Genet9(3):403-11 2000
PubMed ID: 10655550
 
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
 
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

External Links

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dbSNP dbSNP ID: 15910
Gene Cards DDB2
Gene Ontology GO:0003684 damaged DNA binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:1643
NCBI GTR 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2
OMIM 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2
Omim Description XERODERMA PIGMENTOSUM V; XP5
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
  XP, GROUP E; XPE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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