Description:
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
POLYMERASE, DNA, ETA; POLH
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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 |
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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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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 |
5.2 |
| Passage Frozen |
14 |
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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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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 1 |
603968.0001; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
13 BP DEL, NT 343 |
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| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
603968.0001; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
13 BP DEL, NT 343 |
| Remarks |
XP30RO; variant; light to moderate XP symptoms; 88% of control level of unscheduled DNA synthesis with normal strand incision; donor subject is homozygous for a 13 bp deletion at nucleotides 104_116 in exon 2 of the POLH gene (104_116del) introducing a frameshift which results in truncation of the protein [Ala35fs] |
| Yoon JH, Basu D, Choudhury JR, Prakash S, Prakash L, DNA polymerase ? promotes error-free replication through Watson-Crick impairing N1-methyl-deoxyadenosine adduct in conjunction with DNA polymerase ? The Journal of biological chemistry297:100868 2021 |
| PubMed ID: 34119520 |
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| Yoon JH, Basu D, Sellamuthu K, Johnson RE, Prakash S, Prakash L, A novel role of DNA polymerase ? in translesion synthesis in conjunction with DNA polymerase ? Life science alliance4:100868 2020 |
| PubMed ID: 33514655 |
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| Yoon JH, McArthur MJ, Park J, Basu D, Wakamiya M, Prakash L, Prakash S, Error-Prone Replication through UV Lesions by DNA Polymerase ? Protects against Skin Cancers Cell176:1295-1309.e15 2018 |
| PubMed ID: 30773314 |
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| Auclair Y, Rouget R, Belisle JM, Costantino S, Drobetsky EA, Requirement for functional DNA polymerase eta in genome-wide repair of UV-induced DNA damage during S phase DNA repair9:754-64 2010 |
| PubMed ID: 20457011 |
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| Liu G, Chen X, DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation Molecular and cellular biology26:1398-413 2006 |
| PubMed ID: 16449651 |
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| Albertella MR, Green CM, Lehmann AR, O'Connor MJ, A role for polymerase eta in the cellular tolerance to cisplatin-induced damage Cancer research65:9799-806 2005 |
| PubMed ID: 16267001 |
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| Yamada K, Takezawa J, Ezaki O, Translesion replication in cisplatin-treated xeroderma pigmentosum variant cells is also caffeine-sensitive: features of the error-prone DNA polymerase(s) involved in UV-mutagenesis. DNA Repair (Amst)2(8):909-24 2003 |
| PubMed ID: 12893087 |
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| Avkin S, Adar S, Blander G, Livneh Z, Quantitative measurement of translesion replication in human cells: evidence for bypass of abasic sites by a replicative DNA polymerase. Proc Natl Acad Sci U S A99(6):3764-9 2002 |
| PubMed ID: 11891323 |
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| Limoli CL, Giedzinski E, Morgan WF, Cleaver JE, Inaugural Article: Polymerase eta deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and double-strand break repair. Proc Natl Acad Sci U S A97:7939-7946 2000 |
| PubMed ID: 10859352 |
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| Cleaver JE, Afzal V, Feeney L, McDowell M, Sadinski W, Volpe JP, Busch DB,
Coleman DM, Ziffer DW, Yu Y, Nagasawa H, Little JB, Increased ultraviolet sensitivity and chromosomal instability related to P53
function in the xeroderma pigmentosum variant. Cancer Res59(5):1102-8 1999 |
| PubMed ID: 10070969 |
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| Johnson RE, Kondratick CM, Prakash S, Prakash L, hRAD30 mutations in the variant form of xeroderma pigmentosum. Science285(5425):1102-8 1999 |
| PubMed ID: 10398605 |
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| Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F, The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature399:700-4 1999 |
| PubMed ID: 10385124 |
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| Roth M, Muller H, Boyle JM, Immunochemical determination of an initial step in thymine dimer excision repair in xeroderma pigmentosum variant fibroblasts and biopsy material from the normal population and patients with basal cell carcinoma and melanoma. Carcinogenesis8:1301-7 1987 |
| PubMed ID: 3304692 |
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| Cleaver JE, Greene AE, Coriell LL, Mulivor RA, Xeroderma pigmentosum variants. Cytogenet Cell Genet31:188-92 1981 |
| PubMed ID: 7326997 |
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| Gruenert DC, Cleaver JE, Repair of ultraviolet damage in human cells also exposed to agents that cause strand breaks, crosslinks, monoadducts and alkylations. Chem Biol Interact33:163-77 1981 |
| PubMed ID: 7460065 |
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| Jaspers NG, Jansen-van de Kuilen G, Bootsma D, Complement analysis of xeroderma pigmentosum variants. Exp Cell Res136:81-90 1981 |
| PubMed ID: 7297615 |
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| Lehman AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PH, de Weerd-Kastelein EA, Bootsma D, Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci U S A72:219-23 1975 |
| PubMed ID: 1054497 |
| Passage Frozen |
14 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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