【摘要】：經典遺傳學的研究方法為許多遺傳性疾病和遺傳相關性疾病的預防、診斷和治療提供了在分子水平上的直接線索,然而人類疾病的遺傳表現(xiàn)始終存在著經典遺傳學法則所不能解釋的現(xiàn)象。副突變(paramutation)是上世紀50年代首次在玉米中發(fā)現(xiàn)的一種非孟氏遺傳模式,其傳遞的等位基因不存在核苷酸序列的差異,提示了表觀遺傳機制可能參與了基因表達和表型的可遺傳變化。近期的研究發(fā)現(xiàn)關于副突變現(xiàn)象的解釋可能涉及一種新的表觀遺傳學調控機制,即由RNA(特別是非編碼RNA)引發(fā)的基因組改變參與了副突變的發(fā)生和維持。其中DNA甲基轉移酶II所介導的RNA甲基化發(fā)揮了極其重要的作用。對副突變及其機制的研究不僅能夠深化人類對遺傳和生命本質的認識,還有助于開拓在生物工程和疾病診療等應用領域的新思路。本文綜述了副突變的分子機制和研究進展,并且探討了副突變在疾病研究和基因治療中的應用前景。
[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.
【作者單位】： 首都醫(yī)科大學基礎醫(yī)學院生物化學與分子生物學系;
【基金】：國家自然科學基金(81201816) 北京市教委科技發(fā)展計劃(KM201310025003)資助課題
【分類號】：R394

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