POLE gene

The POLE gene (POLE stands for: DNA Polymerase Epsilon, Catalytic Subunit) is a protein-coding gene located on chromosome 12q24.33. The catalytic subunit of DNA polymerase epsilon is involved in DNA repair and replication of chromosomal DNA.

Mutations in this gene have been associated with:

• colorectal cancer 12
• and
• facial dysmorphism, immunodeficiency, livedo and short stature (Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature/FILS/ Orphanet58).

The catalytic subunit of DNA polymerase epsilon is a component of the DNA polymerase epsilon complex (Li Y et al. 2000). Participates in the replication of chromosomal DNA (By similarity). Is required at the replication fork during the synthesis of the leading DNA strands, binds to/or near replication origins and moves along the DNA with the replication fork. The enzyme fat a 3'-5' proofreading exonuclease activity that corrects errors occurring during DNA replication and is involved in DNA synthesis during DNA repair (Wimmer K et al. 2017). Together with DNA polymerase POLD1 and DNA polymerase POLK, plays a role in the synthesis of excision repair (NER) after UV irradiation (Ogi T et al. 2010).

1. Li Y et al. (2000) Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon. J Biol Chem 275:23247-2352.
2. Ogi T et al. (2010) Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells. Mol Cell 37:714-727.
3. Wimmer K et al. (2017) A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. Fam Cancer16: 67-71.