POLH (polymerase (DNA direct), eta)
2001-02-01 Anne Stary , Alain Sarasin AffiliationLaboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France
Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
RAD30,RAD30A,XP-V,XPV
FUSION GENES
DNA/RNA
Description
11 exons.
Of the 11 splice donor/acceptor sites, 10 contained consensus GT/AG dinucleotides; only the splice donor site in exon 11 (sequence CT) varied from the consensus pattern.
The POLH gene lacked a TATA sequence in the region upstream of the transcription-initiation site and the upstream region was GC rich (76% in the sequence between +1 and 270).
The first ATG codon for initiation of translation was included in the second exon. Exon 11 contained the termination codon followed by 661 bp of 3-untranslated sequence
Proteins
Function
The POLH gene encodes DNA polymerase h, which catalyzes the translesion synthesis past a cis-syn T-T pyrimidine dimer, one of the major DNA photoproducts induced by UV light
Homology
mXPV: 80.3% amino acids identity and 86.9% similarity
Mutations
Germinal
12 mutated sites involved in the XP variant syndrome
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11113111 | 2001 | Proofreading of DNA polymerase eta-dependent replication errors. | Bebenek K et al |
| 2109654 | 1990 | Defective postreplication repair in xeroderma pigmentosum variant fibroblasts. | Boyer JC et al |
| 10070969 | 1999 | Increased ultraviolet sensitivity and chromosomal instability related to P53 function in the xeroderma pigmentosum variant. | Cleaver JE et al |
| 3093115 | 1986 | Xeroderma pigmentosum variant and normal fibroblasts show the same response to the inhibition of DNA replication by benzo[a]pyrene-diol-epoxide-I. | Cordeiro-Stone M et al |
| 10022907 | 1999 | Impaired translesion synthesis in xeroderma pigmentosum variant extracts. | Cordonnier AM et al |
| 639041 | 1978 | Defective and enhanced postreplication repair in classical and variant xeroderma pigmentosum cells treated with N-acetoxy-2-acetylaminofluorene. | D'Ambrosio SM et al |
| 9609718 | 1998 | Bypass of a site-specific cis-Syn thymine dimer in an SV40 vector during in vitro replication by HeLa and XPV cell-free extracts. | Ensch-Simon I et al |
| 7830260 | 1994 | Assignment of six patients with xeroderma pigmentosum in Hokkaido area to a variant form. | Fujikawa K et al |
| 10753775 | 2000 | Sloppier copier DNA polymerases involved in genome repair. | Goodman MF et al |
| 1943714 | 1991 | Effect of UV light on DNA chain growth and replicon initiation in xeroderma pigmentosum variant cells. | Griffiths TD et al |
| 11106652 | 2001 | Inefficient bypass of an abasic site by DNA polymerase eta. | Haracska L et al |
| 10398605 | 1999 | hRAD30 mutations in the variant form of xeroderma pigmentosum. | Johnson RE et al |
| 7867708 | 1995 | Xeroderma pigmentosum variant: generation and characterization of fibroblastic cell lines transformed with SV40 large T antigen. | King SA et al |
| 231765 | 1979 | The relationship between pyrimidine dimers and replicating DNA in UV-irradiated human fibroblasts. | Lehmann AR et al |
| 1054497 | 1975 | Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. | Lehmann AR et al |
| 10859352 | 2000 | Polymerase eta deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and double-strand break repair. | Limoli CL et al |
| 10369688 | 1999 | Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity. | Masutani C et al |
| 10801132 | 2000 | Low fidelity DNA synthesis by human DNA polymerase-eta. | Matsuda T et al |
| 3940626 | 1986 | Abnormal sensitivity of human fibroblasts from xeroderma pigmentosum variants to transformation to anchorage independence by ultraviolet radiation. | McCormick JJ et al |
| 9858539 | 1999 | Abnormal, error-prone bypass of photoproducts by xeroderma pigmentosum variant cell extracts results in extreme strand bias for the kinds of mutations induced by UV light. | McGregor WG et al |
| 7247930 | 1981 | Cytological evidence for DNA chain elongation after UV irradiation in the S phase. | Minka DF et al |
| 8423773 | 1993 | Defective replication of psoralen adducts detected at the gene-specific level in xeroderma pigmentosum variant cells. | Misra RR et al |
| 7491119 | 1995 | Induction and repair of (6-4) photoproducts in normal human and xeroderma pigmentosum variant cells during the cell cycle. | Mitchell DL et al |
| 9622087 | 1998 | Defective bypass replication of a leading strand cyclobutane thymine dimer in xeroderma pigmentosum variant cell extracts. | Svoboda DL et al |
| 8538650 | 1996 | Comparison of the rate of excision of major UV photoproducts in the strands of the human HPRT gene of normal and xeroderma pigmentosum variant cells. | Tung BS et al |
| 1652764 | 1991 | Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids. | Wang YC et al |
| 8228338 | 1993 | Ultraviolet hypermutability of a shuttle vector propagated in xeroderma pigmentosum variant cells. | Waters HL et al |
| 10871396 | 2000 | Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. | Yamada A et al |
| 11032022 | 2000 | Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. | Yuasa M et al |
| 11095682 | 2000 | Error-prone lesion bypass by human DNA polymerase eta. | Zhang Y et al |
Other Information
Locus ID:
NCBI: 5429
MIM: 603968
HGNC: 9181
Ensembl: ENSG00000170734
Variants:
dbSNP: 5429
ClinVar: 5429
TCGA: ENSG00000170734
COSMIC: POLH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170734 | ENST00000372226 | Q9Y253 |
| ENSG00000170734 | ENST00000372236 | Q9Y253 |
| ENSG00000170734 | ENST00000372236 | A0A024RD62 |
| ENSG00000170734 | ENST00000443535 | Q5JTF2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37984186 | 2024 | The accurate bypass of pyrimidine dimers by DNA polymerase eta contributes to ultraviolet-induced mutagenesis. | 1 |
| 37984186 | 2024 | The accurate bypass of pyrimidine dimers by DNA polymerase eta contributes to ultraviolet-induced mutagenesis. | 1 |
| 36702254 | 2023 | Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase η and reduces DNA synthesis fidelity. | 2 |
| 36758800 | 2023 | Human DNA polymerase η promotes RNA-templated error-free repair of DNA double-strand breaks. | 7 |
| 37129084 | 2023 | Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (polη). | 2 |
| 37468099 | 2023 | The peroxidation-derived DNA adduct, 6-oxo-M(1)dG, is a strong block to replication by human DNA polymerase η. | 1 |
| 36702254 | 2023 | Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase η and reduces DNA synthesis fidelity. | 2 |
| 36758800 | 2023 | Human DNA polymerase η promotes RNA-templated error-free repair of DNA double-strand breaks. | 7 |
| 37129084 | 2023 | Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (polη). | 2 |
| 37468099 | 2023 | The peroxidation-derived DNA adduct, 6-oxo-M(1)dG, is a strong block to replication by human DNA polymerase η. | 1 |
| 34871863 | 2022 | Incorporation of 5',8-cyclo-2'deoxyadenosines by DNA repair polymerases via base excision repair. | 3 |
| 35328096 | 2022 | Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families. | 0 |
| 35952573 | 2022 | Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations. | 6 |
| 34871863 | 2022 | Incorporation of 5',8-cyclo-2'deoxyadenosines by DNA repair polymerases via base excision repair. | 3 |
| 35328096 | 2022 | Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families. | 0 |
Citation
Anne Stary ; Alain Sarasin
POLH (polymerase (DNA direct), eta)
Atlas Genet Cytogenet Oncol Haematol. 2001-02-01
Online version: http://atlasgeneticsoncology.org/gene/303/polh
