Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2024 Oct 25;143(12):1445–1457. doi: 10.1007/s00439-024-02708-8

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 2 — Functional analysis of DDX41 in the proband fibroblasts. (A) Quantitative real-time PCR analysis showed no significant difference in mRNA expression between the between the proband and control fibroblasts (error bars indicate ± SD, n = 4). (B) Reduced abundance of DDX41 protein in the proband. (Left) Fibroblasts from controls and the proband were lysed in RIPA buffer. Levels of DDX41 were analyzed through immunoblotting of fibroblast lysates using an anti-DDX41 antibody. Immunoblotting of lysates with anti-vinculin confirmed equal loading of the samples. The positions of two molecular weight markers in kilodaltons are shown. (Right) Quantification shows fold change in protein abundance. The control value represents the mean of data from two controls (error bars indicate ± SD, n = 15 independent experiments, ***= P < 0.0001). (C) Reduced STING signaling in the proband. Control and the proband fibroblasts were stimulated with double-stranded DNA complex (Poly (dA: dT)/LyoVec) for 24 h and processed for protein and RNA extraction. (Left) Immunoblots of lysates with anti-phospho-TBK1, Total-TBK1, and anti-DDX41 are shown. (Right) quantitative analysis shows a significantly reduced phospho-TBK1/Total-TBK1 ratio in the proband’s fibroblasts compared to the control (error bars indicate ± SD, n = 4 independent experiments, *= P < 0.05). (D) Quantitative PCR analysis of cDNA shows significant downregulation of IFN response genes IFIT1, OAS1, and ISG15 in the proband fibroblasts. Error bars indicate ± SD, n = 5, *= P < 0.05)