副突变及其表观遗传机制的研究进展
发布时间：2018-12-05 20:35
【摘要】：经典遗传学的研究方法为许多遗传性疾病和遗传相关性疾病的预防、诊断和治疗提供了在分子水平上的直接线索,然而人类疾病的遗传表现始终存在着经典遗传学法则所不能解释的现象。副突变(paramutation)是上世纪50年代首次在玉米中发现的一种非孟氏遗传模式,其传递的等位基因不存在核苷酸序列的差异,提示了表观遗传机制可能参与了基因表达和表型的可遗传变化。近期的研究发现关于副突变现象的解释可能涉及一种新的表观遗传学调控机制,即由RNA(特别是非编码RNA)引发的基因组改变参与了副突变的发生和维持。其中DNA甲基转移酶II所介导的RNA甲基化发挥了极其重要的作用。对副突变及其机制的研究不仅能够深化人类对遗传和生命本质的认识,还有助于开拓在生物工程和疾病诊疗等应用领域的新思路。本文综述了副突变的分子机制和研究进展,并且探讨了副突变在疾病研究和基因治疗中的应用前景。
[Abstract]:Classical genetic research methods provide direct clues at the molecular level for the prevention, diagnosis and treatment of many genetic and genetic related diseases. However, the genetic expression of human disease has always existed a phenomenon that can not be explained by classical genetic law. Para-mutation (paramutation) is the first non-Mencius genetic pattern found in maize in the 1950s, and the alleles transmitted by it have no difference in nucleotide sequence. The results suggest that epigenetic mechanism may be involved in the genetic changes of gene expression and phenotype. Recent studies have found that the explanation of bymutations may involve a new epigenetic regulation mechanism in which genome changes triggered by RNA (especially non-coding RNA) are involved in the occurrence and maintenance of para-mutations. RNA methylation mediated by DNA methyltransferase II plays a very important role. The study of accessory mutation and its mechanism can not only deepen human understanding of the nature of heredity and life, but also help to open up new ideas in the fields of bioengineering and disease diagnosis and treatment. In this paper, the molecular mechanism and research progress of para-mutation are reviewed, and the application prospect of para-mutation in disease research and gene therapy is also discussed.
【作者单位】： 首都医科大学基础医学院生物化学与分子生物学系;
【基金】：国家自然科学基金(81201816) 北京市教委科技发展计划(KM201310025003)资助课题
【分类号】：R394
本文编号：2365433
[Abstract]:Classical genetic research methods provide direct clues at the molecular level for the prevention, diagnosis and treatment of many genetic and genetic related diseases. However, the genetic expression of human disease has always existed a phenomenon that can not be explained by classical genetic law. Para-mutation (paramutation) is the first non-Mencius genetic pattern found in maize in the 1950s, and the alleles transmitted by it have no difference in nucleotide sequence. The results suggest that epigenetic mechanism may be involved in the genetic changes of gene expression and phenotype. Recent studies have found that the explanation of bymutations may involve a new epigenetic regulation mechanism in which genome changes triggered by RNA (especially non-coding RNA) are involved in the occurrence and maintenance of para-mutations. RNA methylation mediated by DNA methyltransferase II plays a very important role. The study of accessory mutation and its mechanism can not only deepen human understanding of the nature of heredity and life, but also help to open up new ideas in the fields of bioengineering and disease diagnosis and treatment. In this paper, the molecular mechanism and research progress of para-mutation are reviewed, and the application prospect of para-mutation in disease research and gene therapy is also discussed.
【作者单位】： 首都医科大学基础医学院生物化学与分子生物学系;
【基金】：国家自然科学基金(81201816) 北京市教委科技发展计划(KM201310025003)资助课题
【分类号】：R394
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