Department of Legal Medicine, Shimane University School of Medicine, Izumo 6938501, Japan.
Department of Legal Medicine, Shimane University School of Medicine, Izumo 6938501, Japan; Autopsy Imaging Center, Shimane University Faculty of Medicine, Izumo, Japan.
Leg Med (Tokyo). 2024 Nov;71:102505. doi: 10.1016/j.legalmed.2024.102505. Epub 2024 Aug 12.
This review comprehensively explores the molecular characterization, genetic insights, and functional implications of human DNase II, an enzyme crucial for DNA hydrolysis under acidic conditions. We discuss its purification, identification, and characterization, emphasizing the importance of highly purified samples for accurate analyses as well as for understanding the biochemical properties. The discovery and analysis of DNase II's cDNA and gene have provided crucial insights into its genetic regulation and chromosomal location. Genetic polymorphism in DNase II activity levels, characterized by distinct alleles, provides valuable information on the diversity of enzyme function among individuals. Tissue distribution studies reveal its widespread presence across human tissues, hinting at potential endocrine connections. Clinical implications of DNase II variants, including therapeutic strategies targeting the JAK1 pathway, offering insights into disease mechanisms and potential treatments. Overall, this review serves as a valuable resource for advancing our knowledge of DNase II and its impact on human health and disease.
这篇综述全面探讨了人类 DNA 酶 II 的分子特征、遗传见解和功能意义，该酶在酸性条件下对 DNA 水解至关重要。我们讨论了它的纯化、鉴定和特性，强调了高纯度样品对于准确分析以及理解生化特性的重要性。DNA 酶 II 的 cDNA 和基因的发现和分析为其遗传调控和染色体位置提供了关键见解。DNase II 活性水平的遗传多态性，由不同的等位基因来表征，为个体间酶功能多样性提供了有价值的信息。组织分布研究揭示了它在人类组织中的广泛存在，暗示了其与内分泌的潜在联系。DNase II 变体的临床意义，包括针对 JAK1 通路的治疗策略，为疾病机制和潜在治疗提供了深入了解。总的来说，这篇综述为我们深入了解 DNA 酶 II 及其对人类健康和疾病的影响提供了有价值的资源。
