Bissler J J
The Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.
Front Biosci. 1998 Mar 27;3:d408-18. doi: 10.2741/a284.
Inverted repeats are important elements in the human genome. Because of their nature, inverted repeats can engage in intra- and intermolecular basepairing. The ability to adopt hairpin and cruciform secondary structures is associated with frameshift mutations. These sequences also can be utilized by the polymerase allowing both intra- and interstrand switching events. Such mechanisms can involve imperfect inverted repeats and lead to additional mutations. Several human genetic diseases illustrate inverted repeat mediated mutagenesis.
反向重复序列是人类基因组中的重要元件。由于其特性，反向重复序列可参与分子内和分子间的碱基配对。形成发夹和十字形二级结构的能力与移码突变有关。这些序列也可被聚合酶利用，允许发生链内和链间的转换事件。此类机制可能涉及不完全反向重复序列，并导致额外的突变。几种人类遗传疾病说明了反向重复序列介导的诱变作用。
