Fig. 1: Identification of ADARN173S as a loss function mutation that correlated with IBD incidence in patients. | Nature Communications

Fig. 1: Identification of ADARN173S as a loss function mutation that correlated with IBD incidence in patients.

From: A loss-of-function human ADAR variant activates innate immune response and promotes bowel inflammation

Fig. 1: Identification of ADARN173S as a loss function mutation that correlated with IBD incidence in patients.

a Observed-to-expected ratio of variants in ADAR based on the Genome Aggregation Database (gnomAD, https://gnomad.broadinstitute.org). pLoF predicted loss-of-function variants. b Allele frequency of the 1: 154574702T/G variant, (p.Gln139Pro), 1:154557848A/G variant, and 1:154574600T/C variant (p.Asn173Ser) in the Finnish (FIN) IBD (UC and CD) and non-IBD population as obtained through the IBD exomes browser (http://ibd.broadinstitute.org). Shown below are the carrier rates of different variants in a Finnish cohort. OR: odds ratio. c The structure of human ADAR and the Asn173 and Gln139 sites (right) predicted by AlphaFold. d The A-to-I RNA editing activity (left) and ADAR protein expression (right) in HCT116 cells transfected with shControl or shADARp110 with or without reconstitution by ectopic expression of WT human ADAR or ADARN173S (n = 3). e Sequence chromatograms of the GLI1 gene transcript in the indicated cell groups. The A to G editing efficiencies are labeled. Data are presented as the mean ± SEM. The statistical significance was analyzed using Fisher’s exact test (Fig. 1b). The remaining statistical differences were determined using unpaired two-tailed t-test. Source data are provided in the Source data file.

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