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Front Biosci. 1998 Mar 27;3:d408-18.

DNA inverted repeats and human disease.

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The Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA.


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.

[Indexed for MEDLINE]

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