New Words in Human Mutagenesis

Background: The substitution rates within different nucleotide contexts are subject to varying levels of bias. The most well known example of such bias is the excess of C to T (C > T) mutations in CpG (CG) dinucleotides. The molecular mechanisms underlying this bias are important factors in human genome evolution and cancer development. The discovery of other nucleotide contexts that have profound effects on substitution rates can improve our understanding of how mutations are acquired, and why mutation hotspots exist. Results: We compared rates of inherited mutations in 1-4 bp nucleotide contexts using reconstructed ancestral states of human single nucleotide polymorphisms (SNPs) from intergenic regions. Chimp and orangutan genomic sequences were used as outgroups. We uncovered 3.5 and 3.3-fold excesses of T > C mutations in the second position of ATTG and ATAG words, respectively, and a 3.4-fold excess of A > C mutations in the first position of the ACAA word. Conclusions: ...

• Type: Journal
• Year: 2011
• Where: BMCBI
• Authors: Alexander Y. Panchin, Sergey I. Mitrofanov, Andrei Alexeevski, Sergei A. Spirin, Yuri V. Panchin
• Keywords: Biometrics, BMCBI 2011, DNA Methylation, Genomic Sequences, Nucleotide Polymorphisms