Ask about this productRelated genes to: RNASEH2A Blocking Peptide
- Gene:
- RNASEH2A NIH gene
- Name:
- ribonuclease H2 subunit A
- Previous symbol:
- -
- Synonyms:
- RNASEHI, RNHIA, RNHL, AGS4
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 2002-06-05
- Date modifiied:
- 2019-04-23
Related products to: RNASEH2A Blocking Peptide
Related articles to: RNASEH2A Blocking Peptide
- Type I interferonopathies are a heterogeneous group of monogenic autoinflammatory disorders characterized by dysregulated type I interferon (IFN-I) signaling due to pathogenic variants that affect nucleic acid sensing, processing, or downstream signaling pathways. Mutations in genes including TREX1, RNASEH2A/B/C, SAMHD1, ADAR1, STING1 (TMEM173), PSMB8, COPA, and DNASE1L3 lead to persistent activation of innate immune pathways, particularly the cGAS-STING, MDA5, and Toll-like receptor pathways, with subsequent JAK-STAT signaling and sustained overexpression of interferon-stimulated genes. Chronic IFN-I activation promotes endothelial dysfunction, vascular inflammation, and tissue injury, providing a mechanistic link between interferonopathies and vasculitic disorders. Clinically, these conditions present with diverse manifestations, including chilblains, livedo reticularis, necrotizing cutaneous vasculopathy, panniculitis, interstitial lung disease, cerebral vasculopathy, and glomerulonephritis, often resembling autoimmune diseases such as primary central nervous system vasculitis, systemic lupus erythematosus (SLE), poliarteritis nodosa (PAN), immune complex vasculitis, and ANCA-associated vasculitis (AAV). A persistently elevated interferon gene signature represents a valuable diagnostic biomarker that distinguishes these disorders from most classical autoimmune vasculitides and facilitates early recognition. Timely genetic testing is essential to establish an accurate diagnosis, guide patient management, and avoid treatment delays. The present review summarizes the molecular mechanisms linking IFN-I dysregulation to endothelial injury and vasculitis, discusses the clinical spectrum and diagnostic challenges of monogenic interferonopathies, and highlights emerging targeted therapies, particularly Janus kinase inhibitors, that support precision medicine approaches for interferon-driven inflammatory diseases. - Source: PubMed
Publication date: 2026/08/07
Gürbüz NidaIsmayilova ShamsAhmadova GulnarÇiftçi RenaAksu GüzideBerdeli Afig - Childhood-onset systemic lupus erythematosus (cSLE) is associated with significant morbidity and mortality. While numerous variants have been associated with adult-onset SLE, limited data exist on genetic variation within cSLE. We aimed to investigate genetic factors of early-onset cSLE, defined as onset of cSLE prior to age 10. - Source: PubMed
Publication date: 2026/06/23
Nelson MeghanMurthy ShantaMaddipatla SushmaShenoy SreekalaPonder LoriChandrakasan ShanmuganathanKugathasan SubraCutler DavePrahalad Sampath - Follicular lymphoma (FL) is one of the most common types of indolent non-Hodgkin lymphoma that can undergo rapid progression, which is associated with poor patient outcomes. The homing of B cells into aberrant immunological niches within the germinal center (GC) is a prerequisite for disease development. The C-C chemokine receptor type 7 (CCR7), expressed by circulating B cells, mediates their homing and dissemination to draining lymph nodes (drLNs). Here, we identified activated B cells emerging from adjacent GCs in drLNs as the origin of circulating memory B cells in distant LNs. Transcriptional upregulation of Ccr7 in these memory B cells was found to guide their migration. To model lymphomagenesis, we generated a mouse model with B-cell-specific Myc overexpression, achieved by CRISPR/Cas9-mediated homologous recombination to insert a Myc expression cassette into the Hipp11 locus. Histological signs of aggressive lymphoma were evident in Ccr7 wild-type mice, whereas Ccr7 knockout mice exhibited pre-malignant atypia phenotypes. We in-depth revealed that Ccr7 knockout impeded the differentiation of pre-malignant Rnaseh2a+ memory B cells toward malignant Pax5+ GC B cells. Furthermore, Ccr7 deficiency attenuated the dependency of malignant memory or GC B cells on extensive follicular dendritic cell (FDC) networks and T-cell help. Conversely, IL-1β-induced FDC re-expansion preferentially fostered the proliferation of malignant GC B cells even in the context of Ccr7 knockout. Our findings reveal an unforeseen role for CCR7 in driving the malignant evolution of memory B cells by orchestrating their migratory dynamics and reprogramming the supportive GC niche. - Source: PubMed
Publication date: 2026/05/15
Deng YuweiJia ZhenyuanMu Xiao-QinMao YiyouZhang QingyuanMa Jianli - Triple-negative breast cancer (TNBC) lacks effective targeted therapies and carries a poor prognosis. TNBC cells escape oncogene-induced senescence and adapt to elevated replication stress. Here, we show that cells escaping senescence depend on overexpression of RNase H2, which removes misincorporated ribonucleotides from genomic DNA. RNASEH2A, the catalytic subunit of RNase H2, is overexpressed in TNBC tumors and correlates with poor survival. Genetic silencing or pharmacological inhibition of RNase H2 selectively impairs TNBC viability, spares non-tumorigenic mammary epithelial cells, and suppresses tumor growth in vivo. Mechanistically, RNase H2 inhibition increases replication stress, DNA damage, and cytosolic single-stranded DNA accumulation, triggering innate immune activation and upregulation of T cell-recruiting chemokines. RNase H2 inhibition synergizes with ATR and PARP inhibitors and enhances immune checkpoint blockade efficacy. Together, these findings identify RNase H2 as a therapeutic vulnerability in TNBC and support combined strategies integrating DNA damage modulation and immunotherapy. - Source: PubMed
Publication date: 2026/04/20
Nguyen Thai Quynh AnhZhang JingDai HuiMurat AysegulDu YongMcGrail Daniel JMeric-Bernstam FundaLin Shiaw-Yih - Aicardi-Goutières syndrome (AGS) is a rare, genetically-determined spectrum of neurodegenerative disorders that remains poorly understood. Owing to the paucity of data from the Middle Eastern population, we aimed to delineate the clinical, radiologic, and genetic features of AGS in an under-represented Middle Eastern cohort. - Source: PubMed
Publication date: 2026/07/01
Alwalid OsamahAl Subhi MarwaAl Serhan Ala AldeenAbdulwahhab Saja BSamran ElhamThabet FarouqBenini RubaAlRayahi Jehan