揭开人类 DNase II 的神秘面纱:分子特征、基因见解和功能影响:人类 DNase II:分子见解和功能影响。

IF 1.3 4区 医学 Q3 MEDICINE, LEGAL Legal Medicine Pub Date : 2024-08-12 DOI:10.1016/j.legalmed.2024.102505
Sultana Razia , Haruo Takeshita , Ken Inoue , Reiko Iida , Misuzu Ueki , Toshihiro Yasuda
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引用次数: 0

摘要

人类 DNase II 是一种在酸性条件下水解 DNA 的关键酶,本综述全面探讨了 DNase II 的分子特征、遗传学见解和功能影响。我们讨论了它的纯化、鉴定和表征,强调了高度纯化的样本对于准确分析和了解其生化特性的重要性。DNase II 的 cDNA 和基因的发现和分析为了解其基因调控和染色体位置提供了重要依据。以不同等位基因为特征的 DNase II 活性水平的遗传多态性,为了解个体间酶功能的多样性提供了宝贵信息。组织分布研究揭示了它在人体组织中的广泛存在,暗示了它与内分泌的潜在联系。DNase II 变异的临床影响,包括针对 JAK1 通路的治疗策略,提供了对疾病机制和潜在治疗方法的见解。总之,这篇综述是增进我们对 DNase II 及其对人类健康和疾病影响的了解的宝贵资源。
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Unveiling human DNase II: Molecular characterization, gene insights, and functional implications

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.

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来源期刊
Legal Medicine
Legal Medicine Nursing-Issues, Ethics and Legal Aspects
CiteScore
2.80
自引率
6.70%
发文量
119
审稿时长
7.9 weeks
期刊介绍: Legal Medicine provides an international forum for the publication of original articles, reviews and correspondence on subjects that cover practical and theoretical areas of interest relating to the wide range of legal medicine. Subjects covered include forensic pathology, toxicology, odontology, anthropology, criminalistics, immunochemistry, hemogenetics and forensic aspects of biological science with emphasis on DNA analysis and molecular biology. Submissions dealing with medicolegal problems such as malpractice, insurance, child abuse or ethics in medical practice are also acceptable.
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