A sequence motif associated with intrinsic mutation hot-spots in human cancers

Abstract

Mutability varies significantly along nucleotide sequences, and mutations occur at higher frequencies at certain positions of a genome. The high rate of mutation in some regions is independent from the function and structure of corresponding regions in protein products. This raises the possibility of DNA sequence and cis-elements as causes of mutations. We used computational methods to examine the surrounding region of 20 mutation hotspots related to different human genetic disorders, and combinatorial patterns of gene mutations in cancers. We introduced A(C/G)AA(C/G)(A/T) as an associated sequence motif in fourteen hotspot of mutations in different cancers. These observations are support the correlation between DNA motifs with hotspots of mutation in cancer and promising marker for selection of suitable regions for genes mutation screening. © 2013 Nassiri I, et al.