Omics · study · 2026
Hypomorphic Lig4 gene mutation in mice predisposes to Th1-skewing intestinal inflammation
Listed in NCBI GEO
Dysregulation of DNA double-strand break (DSB) repair leads to adaptive immunodeficiency, while the remaining lymphocytes are aberrantly activated and provoke inflammation.
Description
To clarify the biological impact of the LIG4 W447C variant identified in our patient, we generated the mutant mice of DNA ligase IV (LIG4), which is critical for DSB repair. Lig4_W447C/W447C mice showed severe intestinal inflammation under adaptive immunodeficiency.
The inflammation was featured by a marked infiltration of T helper type 1 (Th1) cells and macrophages. We used scRNA-seq to analyse the detailed splenocyte population and T cell receptor repertoire in Lig4_W447C/W447C mice. Evaluation of the T cell receptor repertoire in Lig4_W447C/W447C mice revealed activated oligoclonal Th1 cells with restricted Vα diversity.
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Thus, our present results with our novel hypomorphic Lig4 mutant mice show that defective DSB repair leads to Th1-dependent intestinal inflammation under severe adaptive immunodeficiency.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE294nnn/GSE294169 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE294169 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1248502 ncbi.nlm.nih.gov/bioproject/PRJNA1248502 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Mus musculus
- From keywords
- Life Sciences
- Inferred from text
- Single-cell RNA sequencing 65%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE294169 | 15 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[modality].local:modality:single-cell-rna-seq | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[organism].NCBITaxon:10090 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |