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ADAR and hnRNPC deficiency synergize in activating endogenous dsRNA-induced type I IFN responses.

The Journal of experimental medicine · 2021 · Vol. 218 (9)

Abstract

Cytosolic double-stranded RNA (dsRNA) initiates type I IFN responses. Endogenous retroelements, notably Alu elements, constitute a source of dsRNA. Adenosine-to-inosine (A-to-I) editing by ADAR induces mismatches in dsRNA and prevents recognition by MDA5 and autoinflammation. To identify additional endogenous dsRNA checkpoints, we conducted a candidate screen in THP-1 monocytes and found that hnRNPC and ADAR deficiency resulted in synergistic induction of MDA5-dependent IFN responses. RNA-seq analysis demonstrated dysregulation of Alu-containing introns in hnRNPC-deficient cells via utilization of unmasked cryptic splice sites, including introns containing ADAR-dependent A-to-I editing clusters. These putative MDA5 ligands showed reduced editing in the absence of ADAR, providing a plausible mechanism for the combined effects of hnRNPC and ADAR. This study contributes to our understanding of the control of repetitive element-induced autoinflammation and suggests that patients with hnRNPC-mutated tumors might maximally benefit from ADAR inhibition-based immunotherapy.

Publication Types

["Journal Article", "Research Support, N.I.H., Extramural", "Research Support, Non-U.S. Gov't"]

Keywords

[]

MeSH Terms

["Adenosine Deaminase", "Alu Elements", "CRISPR-Cas Systems", "Cytosol", "Heterogeneous-Nuclear Ribonucleoprotein Group C", "Humans", "Interferon Type I", "Interferon-Induced Helicase, IFIH1", "Introns", "MCF-7 Cells", "Membrane Proteins", "RNA Editing", "RNA, Double-Stranded", "RNA-Binding Proteins", "THP-1 Cells"]

Funding

R00 HG009530 NHGRI NIH HHS (United States)
U41 HG009889 NHGRI NIH HHS (United States)
K99 HG009530 NHGRI NIH HHS (United States)
U54 HG007005 NHGRI NIH HHS (United States)
U54HG007005 NHGRI NIH HHS (United States)
HG009530 NHGRI NIH HHS (United States)

Linked Datasets (1)

GSE176012 GSE via ncbi_elink
GEO

RNAseq of hnRNPC and ADAR deficient THP-1

Homo sapiens
66 data files
FileTypeSize
LIB1114296_SAM24343681_R1.fastq.gz RNA-Seq 10.2 GB
LIB1114297_SAM24343682_R1.fastq.gz RNA-Seq 10.9 GB
LIB1114298_SAM24343683_R1.fastq.gz RNA-Seq 11.1 GB
LIB1114299_SAM24343684_R1.fastq.gz RNA-Seq 10.4 GB
LIB1114300_SAM24343685_R1.fastq.gz RNA-Seq 14.3 GB
LIB1114301_SAM24343686_R1.fastq.gz RNA-Seq 13.8 GB
LIB1114302_SAM24343687_R1.fastq.gz RNA-Seq 12.3 GB
LIB1114303_SAM24343688_R1.fastq.gz RNA-Seq 13.3 GB
LIB1114304_SAM24343689_R1.fastq.gz RNA-Seq 13.9 GB
LIB1114305_SAM24343690_R1.fastq.gz RNA-Seq 12.4 GB
LIB1114306_SAM24343691_R1.fastq.gz RNA-Seq 13.0 GB
LIB1114307_SAM24343692_R1.fastq.gz RNA-Seq 12.2 GB
LIB1114308_SAM24343693_R1.fastq.gz RNA-Seq 12.5 GB
LIB1114309_SAM24343694_R1.fastq.gz RNA-Seq 13.9 GB
LIB1114310_SAM24343695_R1.fastq.gz RNA-Seq 14.4 GB
LIB1114311_SAM24343696_R1.fastq.gz RNA-Seq 14.0 GB
LIB1114312_SAM24343697_R1.fastq.gz RNA-Seq 14.2 GB
LIB1114313_SAM24343698_R1.fastq.gz RNA-Seq 13.0 GB
LIB1114323_SAM24343708_R1.fastq.gz RNA-Seq 10.2 GB
LIB1114324_SAM24343709_R1.fastq.gz RNA-Seq 10.5 GB
LIB1114325_SAM24343710_R1.fastq.gz RNA-Seq 10.7 GB
LIB1114326_SAM24343711_R1.fastq.gz RNA-Seq 11.2 GB
LIB1114327_SAM24343712_R1.fastq.gz RNA-Seq 11.2 GB
LIB1114328_SAM24343713_R1.fastq.gz RNA-Seq 11.5 GB
LIB1114329_SAM24343714_R1.fastq.gz RNA-Seq 10.2 GB
LIB1114330_SAM24343715_R1.fastq.gz RNA-Seq 9.5 GB
LIB1114331_SAM24343716_R1.fastq.gz RNA-Seq 10.3 GB
LIB1114332_SAM24343717_R1.fastq.gz RNA-Seq 11.1 GB
LIB1114333_SAM24343718_R1.fastq.gz RNA-Seq 11.7 GB
LIB1114334_SAM24343719_R1.fastq.gz RNA-Seq 11.4 GB
LIB1114335_SAM24343720_R1.fastq.gz RNA-Seq 10.4 GB
LIB1114336_SAM24343721_R1.fastq.gz RNA-Seq 10.7 GB
LIB1114337_SAM24343722_R1.fastq.gz RNA-Seq 11.1 GB
LIB1114338_SAM24343723_R1.fastq.gz RNA-Seq 10.0 GB
LIB1114339_SAM24343724_R1.fastq.gz RNA-Seq 11.3 GB
LIB1114340_SAM24343725_R1.fastq.gz RNA-Seq 11.5 GB
LIB1114359_SAM24343744_R1.fastq.gz RNA-Seq 11.2 GB
LIB1114360_SAM24343745_R1.fastq.gz RNA-Seq 10.5 GB
LIB1114361_SAM24343746_R1.fastq.gz RNA-Seq 10.5 GB
LIB1114362_SAM24343747_R1.fastq.gz RNA-Seq 9.3 GB
LIB1114363_SAM24343748_R1.fastq.gz RNA-Seq 11.1 GB
LIB1114364_SAM24343749_R1.fastq.gz RNA-Seq 11.9 GB
LIB1114365_SAM24343750_R1.fastq.gz RNA-Seq 10.7 GB
LIB1114366_SAM24343751_R1.fastq.gz RNA-Seq 10.5 GB
LIB1114367_SAM24343752_R1.fastq.gz RNA-Seq 10.1 GB
LIB1114368_SAM24343753_R1.fastq.gz RNA-Seq 10.3 GB
LIB1114369_SAM24343754_R1.fastq.gz RNA-Seq 10.6 GB
LIB1114370_SAM24343755_R1.fastq.gz RNA-Seq 12.3 GB
LIB5420086_SAM24363862_R1.fastq.gz RNA-Seq 9.6 GB
LIB5420087_SAM24363863_R1.fastq.gz RNA-Seq 8.7 GB
LIB5420088_SAM24363864_R1.fastq.gz RNA-Seq 9.4 GB
LIB5420089_SAM24363865_R1.fastq.gz RNA-Seq 10.7 GB
LIB5420090_SAM24363866_R1.fastq.gz RNA-Seq 10.1 GB
LIB5420091_SAM24363867_R1.fastq.gz RNA-Seq 8.5 GB
LIB5420092_SAM24363868_R1.fastq.gz RNA-Seq 7.9 GB
LIB5420093_SAM24363869_R1.fastq.gz RNA-Seq 7.8 GB
LIB5420094_SAM24363870_R1.fastq.gz RNA-Seq 9.6 GB
LIB5420095_SAM24363871_R1.fastq.gz RNA-Seq 8.3 GB
LIB5420096_SAM24363872_R1.fastq.gz RNA-Seq 8.6 GB
LIB5420097_SAM24363873_R1.fastq.gz RNA-Seq 9.4 GB
LIB5420098_SAM24363874_R1.fastq.gz RNA-Seq 8.8 GB
LIB5420099_SAM24363875_R1.fastq.gz RNA-Seq 7.9 GB
LIB5420100_SAM24363876_R1.fastq.gz RNA-Seq 7.8 GB
LIB5420101_SAM24363877_R1.fastq.gz RNA-Seq 9.1 GB
LIB5420102_SAM24363878_R1.fastq.gz RNA-Seq 9.2 GB
LIB5420103_SAM24363879_R1.fastq.gz RNA-Seq 8.3 GB

Potentially Related Datasets (1)

These accessions were text-mined from the PMC full text. They may be referenced for comparison, cited from other studies, or otherwise mentioned without being primary data for this paper.

E-MTAB-1371 E-MTAB ArrayExpress

Analysis Pipelines (1)

RNA-seq geo_data_processing GSE176012