Human NEIL1 DNA glycosylase: Structure, function and polymorphisms

- Polymorphisms of NEIL1 are associated with various diseases.
- This review summarizes non-synonymous variants that affect the enzyme activity.
- SNPs in microRNA binding sites are associated with diseases.

Our cells are continuously exposed to oxidative stress which produces oxidative lesions in DNA. These lesions are recognized and removed by glycosylases. NEIL1 glycosylase is present in mammalian cells that possess unique characteristic of removing lesions from wide type of structures like dsDNA, ssDNA, interstrand crosslinks, bubbles and bulges. Impairment in its activity severely affects the repair ability of cell and can lead to various diseases including cancer. Polymorphic variants of NEIL1 are found to affect its activity differently with different substrates. Thus, variants in distinct regions of the gene can alter the structure or expression of NEIL1 protein and may influence the development of diseases. Therefore, characterization of polymorphisms and their study in association with various diseases like cancer would help in determining the risk associated with respective disease and response of patients to environmental factors and therapies. In this review, we have summarized various studies related to the NEIL1 polymorphisms and their effect.