Defective NTHL1 truncation mutants do not bind formamidopyrimidine (FapyA)

Stable Identifier
R-HSA-9630044
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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NTHL1 Q90TER (NTHL1 Q90*) truncation mutant (Weren et al. 2015) lacks the DNA binding domain and the glycosylase domain and is thus predicted to be unable to recognize and bind damaged DNA, including damaged DNA containing formamidopyrimidine (FapyA), although this has not been experimentally tested. NTHL1 Q287TER (NTHL1 Q287*) truncation mutant (Broderick et al. 2017) lacks a portion of the DNA binding domain, including glutamine residue Q287, important for substrate recognition (Robey-Bond et al. 2017) and is predicted to be unable to recognize and bind damaged DNA, including damaged DNA containing formamidopyrimidine (FapyA), although this has not been experimentally tested.

Literature References
PubMed ID Title Journal Year
25938944 A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Weren, RD, Ligtenberg, MJ, Kets, CM, de Voer, RM, Verwiel, ET, Spruijt, L, van Zelst-Stams, WA, Jongmans, MC, Gilissen, C, Hehir-Kwa, JY, Hoischen, A, Shendure, J, Boyle, EA, Kamping, EJ, Nagtegaal, ID, Tops, BB, Nagengast, FM, Geurts van Kessel, A, van Krieken, JH, Kuiper, RP, Hoogerbrugge, N

Nat. Genet. 2015
27713038 Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review

Broderick, P, Dobbins, SE, Chubb, D, Kinnersley, B, Dunlop, MG, Tomlinson, I, Houlston, RS

Gastroenterology 2017
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Authored
Reviewed
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