POLQ

POLQ
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4X0P, 4X0Q, 5AGA, 5A9J, 5A9F
Identifiers
Aliases	POLQ, POLH, PRO0327, polymerase (DNA) theta, DNA polymerase theta, DNA polymerase θ
External IDs	OMIM: 604419; MGI: 2155399; HomoloGene: 32727; GeneCards: POLQ; OMA:POLQ - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	121,545,988 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	36,915,779 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; testicle; ; ventricular zone; ; bone marrow; ; ganglionic eminence; ; bone marrow cells; ; trabecular bone; ; stromal cell of endometrium; ; mucosa of transverse colon; ; gingival epithelium;
	Top expressed in
	tail of embryo; ; genital tubercle; ; morula; ; spermatocyte; ; ventricular zone; ; yolk sac; ; embryo; ; zygote; ; blastocyst; ; secondary oocyte;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; DNA binding; nucleotidyltransferase activity; single-stranded DNA helicase activity; 5'-deoxyribose-5-phosphate lyase activity; chromatin binding; damaged DNA binding; protein binding; nucleic acid binding; DNA-directed DNA polymerase activity; ATP binding; 5'-3' exonuclease activity; identical protein binding;
Cellular component	nucleoplasm; chromosome; nucleus; cytoplasm;
Biological process	somatic hypermutation of immunoglobulin genes; negative regulation of double-strand break repair via homologous recombination; double-strand break repair via alternative nonhomologous end joining; cellular response to DNA damage stimulus; DNA replication; double-strand break repair via homologous recombination; protein homooligomerization; DNA repair; base-excision repair; DNA biosynthetic process; double-strand break repair; DNA-dependent DNA replication; nucleic acid phosphodiester bond hydrolysis;
	Sources:Amigo / QuickGO
Orthologs
	10721
	77782
	ENSG00000051341
	ENSMUSG00000034206
	O75417
	Q8CGS6
	NM_199420; NM_006596
	NM_001159369; NM_029977
	NP_955452
	NP_001152841; NP_084253
	Wikidata
View/Edit Human	View/Edit Mouse

DNA polymerase theta is an enzyme that in humans is encoded by the POLQ gene.^[5]^[6] This polymerase plays a key role in one of the three major double strand break repair pathways: theta-mediated end joining (TMEJ).^[7]^[8]^[9]^[10] Most double-strand breaks are repaired by non-homologous end joining (NHEJ) or homology directed repair (HDR). However, in some contexts, NHEJ and HR are insufficient and TMEJ is the only solution to repair the break.^[11] TMEJ is often described as alternative NHEJ, but differs in that it lacks a requirement for the Ku heterodimer, and it can only act on resected DNA ends.^[12] Following annealing of short (i.e., a few nucleotides) regions on the DNA overhangs, DNA polymerase theta catalyzes template-dependent DNA synthesis across the broken ends, stabilizing the paired structure.^[13]^[14]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000051341 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034206 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Sharief FS, Vojta PJ, Ropp PA, Copeland WC (July 1999). "Cloning and chromosomal mapping of the human DNA polymerase theta (POLQ), the eighth human DNA polymerase". Genomics. 59 (1): 90–6. doi:10.1006/geno.1999.5843. PMID 10395804.
^ "Entrez Gene: POLQ polymerase (DNA directed), theta".
^ Chan SH, Yu AM, McVey M (July 2010). "Dual roles for DNA polymerase theta in alternative end-joining repair of double-strand breaks in Drosophila". PLOS Genetics. 6 (7): e1001005. doi:10.1371/journal.pgen.1001005. PMC 2895639. PMID 20617203.
^ Yu AM, McVey M (September 2010). "Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions". Nucleic Acids Research. 38 (17): 5706–17. doi:10.1093/nar/gkq379. PMC 2943611. PMID 20460465.
^ Koole W, van Schendel R, Karambelas AE, van Heteren JT, Okihara KL, Tijsterman M (2014-02-05). "A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites". Nature Communications. 5 (1): 3216. Bibcode:2014NatCo...5.3216K. doi:10.1038/ncomms4216. PMID 24496117.
^ Roerink SF, van Schendel R, Tijsterman M (June 2014). "Polymerase theta-mediated end joining of replication-associated DNA breaks in C. elegans". Genome Research. 24 (6): 954–62. doi:10.1101/gr.170431.113. PMC 4032859. PMID 24614976.
^ Schimmel J, van Schendel R, den Dunnen JT, Tijsterman M (September 2019). "Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining". Trends in Genetics. 35 (9): 632–644. doi:10.1016/j.tig.2019.06.001. PMID 31296341. S2CID 195892718.
^ Yousefzadeh MJ, Wyatt DW, Takata K, Mu Y, Hensley SC, Tomida J, et al. (October 2014). "Mechanism of suppression of chromosomal instability by DNA polymerase POLQ". PLOS Genetics. 10 (10): e1004654. doi:10.1371/journal.pgen.1004654. PMC 4183433. PMID 25275444.
^ Mateos-Gomez PA, Gong F, Nair N, Miller KM, Lazzerini-Denchi E, Sfeir A (February 2015). "Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination". Nature. 518 (7538): 254–7. Bibcode:2015Natur.518..254M. doi:10.1038/nature14157. PMC 4718306. PMID 25642960.
^ Ceccaldi R, Liu JC, Amunugama R, Hajdu I, Primack B, Petalcorin MI, et al. (February 2015). "Homologous-recombination-deficient tumours are dependent on Polθ-mediated repair". Nature. 518 (7538): 258–62. Bibcode:2015Natur.518..258C. doi:10.1038/nature14184. PMC 4415602. PMID 25642963.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000051341 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034206 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10395804-5] Sharief FS, Vojta PJ, Ropp PA, Copeland WC (July 1999). "Cloning and chromosomal mapping of the human DNA polymerase theta (POLQ), the eighth human DNA polymerase". Genomics. 59 (1): 90–6. doi:10.1006/geno.1999.5843. PMID 10395804.

[entrez-6] "Entrez Gene: POLQ polymerase (DNA directed), theta".

[7] Chan SH, Yu AM, McVey M (July 2010). "Dual roles for DNA polymerase theta in alternative end-joining repair of double-strand breaks in Drosophila". PLOS Genetics. 6 (7): e1001005. doi:10.1371/journal.pgen.1001005. PMC 2895639. PMID 20617203.

[8] Yu AM, McVey M (September 2010). "Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions". Nucleic Acids Research. 38 (17): 5706–17. doi:10.1093/nar/gkq379. PMC 2943611. PMID 20460465.

[9] Koole W, van Schendel R, Karambelas AE, van Heteren JT, Okihara KL, Tijsterman M (2014-02-05). "A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites". Nature Communications. 5 (1): 3216. Bibcode:2014NatCo...5.3216K. doi:10.1038/ncomms4216. PMID 24496117.

[10] Roerink SF, van Schendel R, Tijsterman M (June 2014). "Polymerase theta-mediated end joining of replication-associated DNA breaks in C. elegans". Genome Research. 24 (6): 954–62. doi:10.1101/gr.170431.113. PMC 4032859. PMID 24614976.

[11] Schimmel J, van Schendel R, den Dunnen JT, Tijsterman M (September 2019). "Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining". Trends in Genetics. 35 (9): 632–644. doi:10.1016/j.tig.2019.06.001. PMID 31296341. S2CID 195892718.

[pmid25275444-12] Yousefzadeh MJ, Wyatt DW, Takata K, Mu Y, Hensley SC, Tomida J, et al. (October 2014). "Mechanism of suppression of chromosomal instability by DNA polymerase POLQ". PLOS Genetics. 10 (10): e1004654. doi:10.1371/journal.pgen.1004654. PMC 4183433. PMID 25275444.

[pmid25642960-13] Mateos-Gomez PA, Gong F, Nair N, Miller KM, Lazzerini-Denchi E, Sfeir A (February 2015). "Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination". Nature. 518 (7538): 254–7. Bibcode:2015Natur.518..254M. doi:10.1038/nature14157. PMC 4718306. PMID 25642960.

[pmid25642963-14] Ceccaldi R, Liu JC, Amunugama R, Hajdu I, Primack B, Petalcorin MI, et al. (February 2015). "Homologous-recombination-deficient tumours are dependent on Polθ-mediated repair". Nature. 518 (7538): 258–62. Bibcode:2015Natur.518..258C. doi:10.1038/nature14184. PMC 4415602. PMID 25642963.

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POLQ

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