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Introduction/Background
The replicative DNA polymerases (pols) α, δ, and ɛ are central components in DNA replication, repair, recombination, and cell cycle control. Numerous genetic studies have provided compelling evidence to establish DNA polymerase ε (POLε/POLE) as the primary DNA polymerase responsible for leading strand synthesis during eukaryotic nuclear genome replication (Huang et al. 1999; Zahurancik et al. 2015). POLε is a highly conserved multi-subunit polymerase (heterotetramer) consisting of proteins encoded by four genes: POLE1, which encodes a 261 kDa protein comprising the catalytic activity complexed with the POLE2 (59 kDa) subunit, in addition to POLE3 (17 kDa) and POLE4 (12 kDa). POLE2 has no known catalytic activity, but the absence of POLE2 reduce Polε stability (Zahurancik et al. 2015). Polε is involved in several processes which include DNA replication, repair of DNA damage, control of cell cycle...
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References
Frugoni F, Dobbs K, Felgentreff K, Aldhekri H, Al Saud BK, Arnaout R, Ali AA, Abhyankar A, Alroqi F, Giliani S, Ojeda MM, Tsitsikov E, Pai SY, Casanova JL, Notarangelo LD, Manis JP. A novel mutation in the POLE2 gene causing combined immunodeficiency. J Allergy Clin Immunol. 2016;137: 635–8.e631.
Huang D, Knuuti R, Palosaari H, Pospiech H, Syvaoja JE. cDNA and structural organization of the gene Pole1 for the mouse DNA polymerase epsilon catalytic subunit. Biochim Biophys Acta. 1999;1445:363–71.
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, De Villartay JP, Picard C, Durandy A, Fischer A, De Saint Basile G. Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”). J Exp Med. 2012;209:2323–30.
Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC Med Genet. 2015;16:31.
Zahurancik WJ, Baranovskiy AG, Tahirov TH, Suo Z. Comparison of the kinetic parameters of the truncated catalytic subunit and holoenzyme of human DNA polymerase varepsilon. DNA Repair (Amst). 2015;29: 16–22.
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Thiffault, I., Saunders, C., Raje, N., Safina, N.P. (2019). Clinical Presentation of Polymerase E1 (POLE1) and Polymerase E2 (POLE2) Deficiencies. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_181-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_181-1
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