[The mechanisms of palindrome-stimulated mutation and related human diseases]

In prokaryotic and eukaryotic genomes, the palindrome regions are highly variable and instable. The reason for this instability is that palindrome can form a hairpin or cruciform structure, which can result in deletions or chromosomal translocations by certain mechanisms, such as slipped mispairing, single-strand annealing and non-homologous end joining. In human genomes, palindromes commonly exist in the essential elements which can regulate the expressions of different genes, and the mutations stimulated by palindromes are also closely associated with the occurrences and progressions of certain human diseases such as male infertility and thalassemia. Based on recent studies, we briefly summarize the types of mutations caused by palindromes and their possible mechanisms, as well as the related human diseases. This review would provide some information for the following researches about the roles and functions of palindromes in gene expression, regulation, mutation and related human diseases.