期刊
FEBS LETTERS
卷 588, 期 18, 页码 3382-3389出版社
WILEY
DOI: 10.1016/j.febslet.2014.07.029
关键词
Nucleotide-binding, leucine-rich repeat containing receptor; Nucleotide oligomerisation domain containing 2; Blau syndrome; NACHT; Single nucleotide polymorphisms; Innate immunity
资金
- Wellcome Trust CDF [WT085090MA]
- Biotechnology and Biological Sciences Research Council [979868] Funding Source: researchfish
Understanding how single nucleotide polymorphisms (SNPs) lead to disease at a molecular level provides a starting point for improved therapeutic intervention. SNPs in the innate immune receptor nucleotide oligomerisation domain 2 (NOD2) can cause the inflammatory disorders Blau Syndrome (BS) and early onset sarcoidosis (EOS) through receptor hyperactivation. Here, we show that these polymorphisms cluster into two primary locations: the ATP/Mg2+-binding site and helical domain 1. Polymorphisms in these two locations may consequently dysregulate ATP hydrolysis and NOD2 autoinhibition, respectively. Complementary mutations in NOD1 did not mirror the NOD2 phenotype, which indicates that NOD1 and NOD2 are activated and regulated by distinct methods. (C) 2014 The Authors. Published by Elsevier B.V. on behalf of the Federation of European Biochemical Societies. This is an open access article under the CC BY license
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