NA01389
DNA from Fibroblast
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
DNA DAMAGE-BINDING PROTEIN 2; DDB2
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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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White
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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
DDB2 |
| Chromosomal Location |
11p12-p11 |
| Allelic Variant 1 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E |
| Identified Mutation |
LEU350PRO |
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| Gene |
DDB2 |
| Chromosomal Location |
11p12-p11 |
| Allelic Variant 2 |
N349del; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E |
| Identified Mutation |
ASN349del |
| 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). |
| 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 |
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| 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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| 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 |
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| 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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| 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 |
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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 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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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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| 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 |
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