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.
Bissler
J J
JJ
The Children's Hospital Research Foundation, Cincinnati, Ohio 45229-3039, USA. john.bissler@chmcc.org
D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics* / Q000502:physiology
D004247:DNA