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Unusual DNA folding increases the rates of mutations DNA sequences that can fold into shapes other than the classic double helix tend to have higher mutation rates than other regions in the human genome. New research by a team of Penn State scientists shows that the elevated mutation rate in these sequences plays a major role in determining regional variation in mutation rates across the genome.  Deciphering the patterns and causes of regional variation in mutation rates is important both for understanding evolution and for predicting sites of new mutations that could lead to disease. “Most of the time we think about DNA as the classic double helix; this basic form is referred to as ‘B-DNA,’” said Wilfried Guiblet, co-first author of the paper, a graduate student at Penn State at the time of research and now a postdoctoral scholar at the National Cancer Institute. “But, as much as 13% of the human genome can fold into different conformations called ‘non-B DNA.’ We wa

United statesWilfried guibletFrancesca chiaromonteKateryna makovaKristin eckertVernem willamanMarziaa cremonaRoberts harrisYi fei huangLife sciences at pennPenn state cancer instituteNational cancer institutePenn state college of medicineUs national institutes of healthNucleic acids researchStatistics for the life sciences at penn