Like external mutagenic agents, innate mechanisms of mutation also lead to human disease. The combined impact of innate and environmental mutagenesis over millennia has been to cause genetic variation and, as a result of natural selection, facilitate evolution. The fidelity of the genetic code is particularly vulnerable to mutagenic mechanisms during replication. During cell cycle phases other than S-phase, DNA is compared to the complementary strand and, if needed, repaired. During replication of the genetic code, point and frameshift mutations can occur in the newly synthesized strand.
Replication is a rapid process.
Certain template sequences are more prone to replication errors. In this review, I will focus on the inverted repeat and its mechanistic role in contribu ting to genetic disease.