Defective NEIL1 variants do not cleave Tg

Stable Identifier
R-HSA-9629166
Type
Reaction [transition]
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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Defective NEIL1 variants do not cleave Tg
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NEIL1 G83D variant is a low frequency polymorphism, estimated to occur in ~1% of US population (Roy et al. 2007), and is associated with primary sclerosing cholangitis and cholangiocarcinoma (Forsbring et al. 2009). NEIL1 G83D does not cleave thymine glycol (Tg) from damaged DNA (Prakash et al. 2014).
NEIL1 E28del, an in-frame deletion variant of NEIL1 reported in gastric (stomach) cancer, where glutamate at position 28 is deleted, does not cleave Tg from damaged DNA (Shinmura et al. 2008).
Literature References
PubMed ID Title Journal Year
24382305 Genome and cancer single nucleotide polymorphisms of the human NEIL1 DNA glycosylase: activity, structure, and the effect of editing

Carroll, BL, Sweasy, JB, Prakash, A, Doublié, S, Wallace, SS

DNA Repair (Amst.) 2014
15319300 Inactivating mutations of the human base excision repair gene NEIL1 in gastric cancer

Shinmura, K, Maekawa, M, Igarashi, H, Takezaki, T, Taniguchi, T, Goto, M, Sugimura, H, Tao, H

Carcinogenesis 2004
Participants
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as an event of
Normal reaction
NEIL1 cleaves thymine glycol from damaged DNA (Homo sapiens)
Functional status

Loss of function of NEIL1 G83D,NEIL1 E28del:Tg-dsDNA [nucleoplasm]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Authored
Orlic-Milacic, M  (2018-11-27)
Reviewed
Sampath, H  (2019-01-03)
Created
Orlic-Milacic, M  (2018-11-19)
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