Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Clinical Presentation of Polymerase E1 (POLE1) and Polymerase E2 (POLE2) Deficiencies

  • Isabelle ThiffaultEmail author
  • Carol Saunders
  • Nikita Raje
  • Nicole P. Safina
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_181-1

Synonyms

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

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Isabelle Thiffault
    • 1
    • 2
    • 4
    Email author
  • Carol Saunders
    • 1
    • 2
    • 4
  • Nikita Raje
    • 3
    • 4
    • 5
  • Nicole P. Safina
    • 3
    • 4
    • 6
  1. 1.Center for Pediatric Genomic MedicineChildren’s Mercy HospitalKansas CityUSA
  2. 2.Department of Pathology and Laboratory MedicineChildren’s Mercy HospitalKansas CityUSA
  3. 3.Department of PediatricsChildren’s Mercy HospitalKansas CityUSA
  4. 4.University of Missouri–Kansas City School of MedicineKansas CityUSA
  5. 5.Pediatric Allergy, Asthma and Immunology ClinicChildren’s Mercy HospitalKansas CityUSA
  6. 6.Division of Clinical GeneticsChildren’s Mercy HospitalKansas CityUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA