DNA inverted repeats and human disease

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.