ArticleHuman mutation2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.Cell reports · 2026Article
- Second generation lethality in RNAseH2a knockout zebrafish.Nucleic acids research · 2024Article
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
- Novel RNASEH2C mutation in multiple members of a large family: insights into phenotypic spectrum of Aicardi-Goutières Syndrome.BMJ neurology open · 2020Article
- A Roadmap Toward the Definition of Actionable Tumor-Specific Antigens.Frontiers in immunology · 2020Review
- Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.Journal of clinical medicine · 2019Article
- Systematic Analysis of Splice-Site-Creating Mutations in Cancer.Cell reports · 2018Article
- Abasic and oxidized ribonucleotides embedded in DNA are processed by human APE1 and not by RNase H2.Nucleic acids research · 2017Article
- Taking the STING out of TLR-driven autoimmune diseases: good, bad, or indifferent?Journal of leukocyte biology · 2017Review
- Synergy between Hematopoietic and Radioresistant Stromal Cells Is Required for Autoimmune Manifestations of DNase II-/-IFNaR-/- Mice.Journal of immunology (Baltimore, Md. : 1950) · 2016Article
- Extensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors.Oncotarget · 2016Article
- Nucleic Acid-Sensing Receptors: Rheostats of Autoimmunity and Autoinflammation.Journal of immunology (Baltimore, Md. : 1950) · 2015Review
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.American journal of medical genetics. Part A · 2015Article
- MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.Genome biology · 2014Article
- Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.Advances in experimental medicine and biology · 2014Review
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19 authors at 13 institutions in 6 countries.
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Abstract
Aicardi-Goutières syndrome is an inflammatory disorder resulting from mutations in TREX1, RNASEH2A/2B/2C, SAMHD1, or ADAR1. Here, we provide molecular, biochemical, and cellular evidence for the pathogenicity of two synonymous variants in RNASEH2A. Firstly, the c.69G>A (p.Val23Val) mutation causes the formation of a splice donor site within exon 1, resulting in an out of frame deletion at the end of exon 1, leading to reduced RNase H2 protein levels. The second mutation, c.75C>T (p.Arg25Arg), also introduces a splice donor site within exon 1, and the internal deletion of 18 amino acids. The truncated protein still forms a heterotrimeric RNase H2 complex, but lacks catalytic activity. However, as a likely result of leaky splicing, a small amount of full-length active protein is apparently produced in an individual homozygous for this mutation. Recognition of the disease causing status of these variants allows for diagnostic testing in relevant families.
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