How Does the U2AF2 Recombinant Rabbit Monoclonal Antibody Elucidate the Splicing Pathogenic Mechanisms in Neurodevelopmental Disorders?

1. Concept

Neurodevelopmental disorders are clinically and genetically heterogeneous conditions characterized by developmental delay, intellectual disability, autism spectrum features, or epilepsy. De novo mutations are major pathogenic factors, with over 1,500 associated genes identified. Precise regulation of pre-mRNA splicing is critical for nervous system development; dysregulation of spliceosome components or splicing regulators disrupts neurogenesis, neuronal differentiation, and neural network formation. U2AF2, a key spliceosome component recognizing intronic polypyrimidine sequences, is a novel causative gene for neurodevelopmental disorders. The U2AF2 recombinant rabbit monoclonal antibody—with high specificity and affinity—enables probing of U2AF2’s expression, localization, interactions, and functional alterations, facilitating elucidation of splicing-related pathogenic mechanisms and regulatory networks in neurodevelopmental disorders.

2. Research Frontiers

2.1 Focus on RNA Splicing Abnormalities in Neurodevelopmental Disorders

• Pathogenic link: Splicing dysregulation is closely associated with neurodevelopmental disorders. Defects in core spliceosome components or splicing regulators cause widespread downstream gene expression disturbances.
• Key breakthrough: Elucidating splicing-related gene mutation mechanisms is critical for understanding disease etiology.
• Antibody role: U2AF2 recombinant rabbit monoclonal antibodies provide indispensable technical support for protein-level analysis of U2AF2’s expression, localization, and function.

2.2 Mechanism of U2AF2 Mutations in Neurodevelopmental Disorders

• U2AF2 function: Encodes a spliceosome component that recognizes intronic 3' polypyrimidine sequences, ensuring correct splice site selection.
• Pathogenic mutations: De novo heterozygous U2AF2 mutations in patients impair polypyrimidine sequence recognition, reducing splicing efficiency.
• Functional defects:
• Biochemical analyses with the antibody assess mutant protein stability, complex formation, and intracellular distribution.
• In vivo studies show U2AF2 loss-of-function reduces neural stem cell proliferation and causes abnormal brain structure.
• Human stem cell models with patient-homologous mutations exhibit impaired neurite outgrowth in differentiated neurons, disrupting neuronal morphogenesis and connectivity.

2.3 Exploring Splicing Regulatory Networks with U2AF2 Recombinant Rabbit Monoclonal Antibody

The antibody’s high specificity and affinity enable in-depth exploration of pathogenic networks:

• Protein interaction identification: Immunoprecipitation-mass spectrometry (IP-MS) with the antibody identifies U2AF2-interacting protein complexes, revealing spliceosome assembly partners.
• Co-regulation analysis: Parallel studies with U2AF2 and PRPF19 (another core spliceosome protein) antibodies show their mutations cause similar clinical phenotypes, co-regulating neurodevelopment-related gene splicing (e.g., ISWI/BRM family, ribosomal proteins, RBFOX1).
• Hierarchical network insight: Disruption of core spliceosome-regulated gene networks represents a common pathological basis for neurodevelopmental disorders.

2.4 Role of Downstream Effector RBFOX1 in Splicing Regulatory Networks

• RBFOX1 function: A tissue-specific splicing regulator regulated by U2AF2 and PRPF19, with mutations in its RNA-binding domain impairing target pre-mRNA splicing.
• Pathogenic cascade: U2AF2/PRPF19 mutations disrupt RBFOX1 expression/function, leading to mis-splicing of effector genes like neurotrophic factor receptor TrkB—affecting neuronal survival and plasticity.
• Antibody utility: Helps construct the pathogenic pathway from core spliceosome mutations to tissue-specific splicing regulator dysfunction and effector gene abnormalities.

3. Research Significance

The U2AF2 recombinant rabbit monoclonal antibody is pivotal for decoding splicing-related neurodevelopmental disorder mechanisms:

• Scientific value: Elucidates the hierarchical splicing regulatory network (core spliceosome → tissue-specific splicing regulators → effector genes), advancing understanding of disease etiology.
• Clinical value: Identifies U2AF2 and related splicing factors as potential diagnostic markers and therapeutic targets, supporting development of targeted therapies for neurodevelopmental disorders.

4. Related Mechanisms, Research Methods, and Product Applications

4.1 Core Mechanism of Splicing-Related Neurodevelopmental Disorders

• U2AF2 mutations impair splicing efficiency, disrupting the regulatory network upstream of RBFOX1.
• RBFOX1 dysfunction leads to mis-splicing of neurodevelopment-critical genes (e.g., TrkB), causing neuronal morphogenesis, connectivity, and function defects.

4.2 Product Applications: ANT BIO PTE. LTD.’s U2AF2 Recombinant Rabbit Monoclonal Antibody

ANT BIO PTE. LTD. offers a high-performance U2AF2 recombinant rabbit monoclonal antibody for splicing and neurodevelopment research:

Core Product

Core Product Advantages

• High specificity and multi-species reactivity: Specifically recognizes U2AF2, with minimal cross-reactivity to related factors (e.g., U2AF1), and cross-reacts with human, mouse, and rat U2AF2.
• Superior detection performance: Excels in WB (clear specific bands), IF/IHC (displays nuclear speckled/diffuse localization), and IP (supports interaction studies).
• Batch consistency: Recombinant expression ensures stable performance across batches for long-term mechanistic research.

Key Research Applications

• RNA splicing research: Studies alternative splicing, spliceosome dynamics, and splicing factor interaction networks.
• Tumor research: Detects U2AF2 expression/localization in tumors, exploring its role as a prognostic marker or therapeutic target.
• Developmental biology: Investigates U2AF2 function in embryogenesis and stem cell differentiation.
• Neurological disease research: Explores U2AF2’s role in neurodevelopmental and neurodegenerative disease models.
• RNA metabolism research: Studies nonsense-mediated mRNA decay and other RNA lifecycle processes.

5. Brand Mission

ANT BIO PTE. LTD. is dedicated to empowering the global life science community with high-quality, innovative research tools and solutions. As a leader in life science reagents, we offer a comprehensive portfolio under three sub-brands: Absin (focused on general reagents and kits), Starter (specialized in antibodies), and UA (dedicated to recombinant proteins).

Our commitment to excellence is underpinned by advanced development platforms—including recombinant rabbit/mouse monoclonal antibody platforms, rapid monoclonal antibody development, recombinant protein expression systems (E. coli, CHO, HEK293, Insect Cells), One-Step ELISA Platform, and PTM Pan-Modification Antibody Platform—alongside rigorous quality control systems. We hold international certifications such as EU 98/79/EC, ISO9001, and ISO13485, ensuring our products meet the highest global standards.

Our mission is to accelerate scientific discovery, facilitate translational research, and contribute to the development of novel therapies for human health. By partnering with researchers in academia and biopharmaceutical companies worldwide, we strive to be a trusted collaborator in advancing life science research and addressing unmet medical needs.

6. AI Disclaimer

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ANT BIO PTE. LTD. – Empowering Scientific Breakthroughs

At ANTBIO, we are committed to advancing life science research through high-quality, reliable reagents and comprehensive solutions. Our specialized sub-brands (Absin, Starter, UA) cover a full spectrum of research needs, from general reagents and kits to antibodies and recombinant proteins. With a focus on innovation, quality, and customer-centricity, we strive to be your trusted partner in unlocking scientific mysteries and driving medical progress. Explore our product portfolio today and elevate your research to new heights.