小DNA片段对基因组DNA的序列特异性修饰
Sequence-specific modification of genomic DNA by small DNA fragments.
作者信息
Gruenert Dieter C, Bruscia Emanuela, Novelli Giuseppe, Colosimo Alessia, Dallapiccola Bruno, Sangiuolo Federica, Goncz Kaarin K
机构信息
Department of Medicine, University of Vermont, Burlington, Vermont, USA.
出版信息
J Clin Invest. 2003 Sep;112(5):637-41. doi: 10.1172/JCI19773.
Abstract
Small DNA fragments have been used to modify endogenous genomic DNA in both human and mouse cells. This strategy for sequence-specific modification or genomic editing, known as small-fragment homologous replacement (SFHR), has yet to be characterized in terms of its underlying mechanisms. Genotypic and phenotypic analyses following SFHR have shown specific modification of disease-causing genetic loci associated with cystic fibrosis, beta-thalassemia, and Duchenne muscular dystrophy, suggesting that SFHR has potential as a therapeutic modality for the treatment of monogenic inherited disease.
摘要
小DNA片段已被用于修饰人类和小鼠细胞中的内源性基因组DNA。这种用于序列特异性修饰或基因组编辑的策略，即小片段同源替换（SFHR），其潜在机制尚未得到明确阐释。SFHR后的基因型和表型分析表明，与囊性纤维化、β地中海贫血和杜氏肌营养不良相关的致病基因位点发生了特异性修饰，这表明SFHR有潜力成为治疗单基因遗传病的一种治疗方式。
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