PapersFlow Research Brief
RNA regulation and disease
Research Guide
What is RNA regulation and disease?
RNA regulation and disease encompasses the mechanisms by which RNA editing by ADAR deaminases influences gene regulation, innate immunity, microRNA processing, and the genomic landscape, contributing to disorders such as neurological conditions and cancer.
This field examines RNA editing by ADAR deaminases and its roles in gene regulation, innate immunity, microRNA processing, and transcriptome diversity, with connections to neurological disorders and cancer. A total of 41,980 papers address these topics in molecular biology. Growth rate over the past five years is not available.
Topic Hierarchy
Research Sub-Topics
ADAR-mediated A-to-I RNA editing in neurological disorders
This sub-topic examines the role of ADAR enzymes in converting adenosine to inosine in RNA transcripts and its dysregulation in diseases like epilepsy, ALS, and autism spectrum disorders. Researchers investigate how editing events alter protein function, synaptic plasticity, and neuronal excitability.
RNA editing by ADAR in cancer transcriptome diversity
This area explores how ADAR-induced RNA editing contributes to tumor heterogeneity, oncogene activation, and immune evasion in cancers such as glioblastoma and melanoma. Studies focus on editing patterns in tumor microenvironments and their prognostic value.
ADAR RNA editing in innate immunity and antiviral responses
Researchers study how ADAR deaminases edit viral and endogenous RNAs to modulate interferon signaling, MDA5/RIG-I sensing, and autoimmune responses. This includes mechanisms preventing excessive inflammation via self vs. non-self RNA discrimination.
RNA editing regulation of microRNA biogenesis and function
This sub-topic investigates ADAR editing of pri-miRNAs and their targets, affecting miRNA maturation, stability, and silencing efficacy in gene regulation networks. Work spans developmental biology and pathological miRNA dysregulation.
Genomic determinants of ADAR RNA editing site specificity
Scientists analyze sequence motifs, double-stranded RNA structures, and trans-factors influencing ADAR substrate selection across transcriptomes. Computational and experimental models predict editing landscapes in health and disease.
Why It Matters
RNA regulation impacts neurological disorders and cancer through altered gene expression and immune responses. For instance, mutations in PINK1 cause hereditary early-onset Parkinson's disease, a neurodegenerative disorder marked by dopaminergic neuron loss in the substantia nigra, as shown in "Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1" (Valente et al., 2004), with the PARK6 locus mapped to chromosome 1p36. In cancer, let-7 microRNA family members regulate RAS, affecting tumor development, per "RAS Is Regulated by the let-7 MicroRNA Family" (Johnson et al., 2005). Innate immunity relies on RNA helicases like RIG-I and MDA5 for recognizing RNA viruses, as detailed in "The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses" (Yoneyama et al., 2004) and "Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses" (Kato et al., 2006), linking dysregulation to immune disorders.
Reading Guide
Where to Start
"In vitro selection of RNA molecules that bind specific ligands" by Ellington and Szostak (1990) provides a foundational method for identifying functional RNAs, serving as an accessible entry to RNA regulation techniques relevant to disease contexts.
Key Papers Explained
Ellington and Szostak (1990) "In vitro selection of RNA molecules that bind specific ligands" established SELEX for ligand-binding RNAs, enabling studies like Yoneyama et al. (2004) "The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses," which identified RIG-I's antiviral role, and Kato et al. (2006) "Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses," differentiating helicase functions. Johnson et al. (2005) "RAS Is Regulated by the let-7 MicroRNA Family" and Valente et al. (2004) "Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1" apply these to cancer regulation and neurodegeneration, respectively.
Paper Timeline
Most-cited paper highlighted in red. Papers ordered chronologically.
Advanced Directions
Current frontiers center on ADAR deaminase functions in RNA editing for gene regulation, innate immunity, and microRNA processing, as reflected in the 41,980 papers on neurological disorders and cancer, though no recent preprints or news are available.
Papers at a Glance
| # | Paper | Year | Venue | Citations | Open Access |
|---|---|---|---|---|---|
| 1 | In vitro selection of RNA molecules that bind specific ligands | 1990 | Nature | 9.6K | ✕ |
| 2 | Programmable editing of a target base in genomic DNA without d... | 2016 | Nature | 5.2K | ✓ |
| 3 | Novel Proteinaceous Infectious Particles Cause Scrapie | 1982 | Science | 5.1K | ✕ |
| 4 | Search-and-replace genome editing without double-strand breaks... | 2019 | Nature | 4.3K | ✓ |
| 5 | XBP1 mRNA Is Induced by ATF6 and Spliced by IRE1 in Response t... | 2001 | Cell | 4.0K | ✓ |
| 6 | The RNA helicase RIG-I has an essential function in double-str... | 2004 | Nature Immunology | 3.8K | ✕ |
| 7 | Differential roles of MDA5 and RIG-I helicases in the recognit... | 2006 | Nature | 3.8K | ✕ |
| 8 | CRISPR-Mediated Modular RNA-Guided Regulation of Transcription... | 2013 | Cell | 3.7K | ✓ |
| 9 | RAS Is Regulated by the let-7 MicroRNA Family | 2005 | Cell | 3.6K | ✓ |
| 10 | Hereditary Early-Onset Parkinson's Disease Caused by Mutations... | 2004 | Science | 3.4K | ✓ |
Frequently Asked Questions
What role does RIG-I play in innate immunity?
RIG-I, an RNA helicase, functions essentially in double-stranded RNA-induced innate antiviral responses. Yoneyama et al. (2004) in "The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses" demonstrated its necessity for detecting viral RNA and triggering interferon production.
How do MDA5 and RIG-I differ in RNA virus recognition?
MDA5 and RIG-I helicases have differential roles in recognizing RNA viruses. Kato et al. (2006) in "Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses" showed MDA5 detects certain picornaviruses while RIG-I senses other viral RNAs, both activating innate immune signaling.
What is the link between PINK1 mutations and Parkinson's disease?
Mutations in PINK1 cause hereditary early-onset Parkinson's disease. Valente et al. (2004) in "Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1" identified these mutations at the PARK6 locus on chromosome 1p36, leading to degeneration of dopaminergic neurons.
How does let-7 microRNA regulate RAS in cancer?
The let-7 microRNA family regulates RAS expression, impacting cancer progression. Johnson et al. (2005) in "RAS Is Regulated by the let-7 MicroRNA Family" established that let-7 binds RAS mRNA to suppress its levels, reducing oncogenic activity.
What is the function of XBP1 mRNA splicing in ER stress?
XBP1 mRNA is induced by ATF6 and spliced by IRE1 during ER stress to produce an active transcription factor. Yoshida et al. (2001) in "XBP1 mRNA Is Induced by ATF6 and Spliced by IRE1 in Response to ER Stress to Produce a Highly Active Transcription Factor" detailed this unfolded protein response mechanism.
How does RNA editing relate to ADAR deaminases?
ADAR deaminases perform RNA editing, affecting gene regulation and disease. This cluster explores their roles in innate immunity, microRNA processing, neurological disorders, and cancer through A-to-I changes in the transcriptome.
Open Research Questions
- ? How do ADAR-mediated RNA edits specifically modulate innate immune responses to evade viral sensing?
- ? What are the precise contributions of RNA editing to transcriptome diversity in cancer cells?
- ? In what ways do disruptions in microRNA processing via ADARs drive neurological disorder progression?
- ? How can targeted modulation of RIG-I and MDA5 pathways address RNA virus-induced diseases?
- ? What mechanisms link PINK1-related RNA regulation to dopaminergic neuron degeneration in Parkinson's?
Recent Trends
The field maintains 41,980 works with no specified five-year growth rate; persistent focus remains on RNA editing by ADAR deaminases, gene regulation, innate immunity via RIG-I and MDA5, and disease links to cancer and neurology, without new preprints or news in the last six to twelve months.
Research RNA regulation and disease with AI
PapersFlow provides specialized AI tools for Biochemistry, Genetics and Molecular Biology researchers. Here are the most relevant for this topic:
AI Literature Review
Automate paper discovery and synthesis across 474M+ papers
Paper Summarizer
Get structured summaries of any paper in seconds
Deep Research Reports
Multi-source evidence synthesis with counter-evidence
See how researchers in Life Sciences use PapersFlow
Field-specific workflows, example queries, and use cases.
Start Researching RNA regulation and disease with AI
Search 474M+ papers, run AI-powered literature reviews, and write with integrated citations — all in one workspace.
See how PapersFlow works for Biochemistry, Genetics and Molecular Biology researchers