Substitution rate variation at human CpG sites correlates with non-CpG divergence, methylation level and GC content.

ABSTRACT:

Background

A major goal in the study of molecular evolution is to unravel the mechanisms that induce variation in the germ line mutation rate and in the genome-wide mutation profile. The rate of germ line mutation is considerably higher for cytosines at CpG sites than for any other nucleotide in the human genome, an increase commonly attributed to cytosine methylation at CpG sites. The CpG mutation rate, however, is not uniform across the genome and, as methylation levels have recently been shown to vary throughout the genome, it has been hypothesized that methylation status may govern variation in the rate of CpG mutation.

Results

Here, we use genome-wide methylation data from human sperm cells to investigate the impact of DNA methylation on the CpG substitution rate in int

SUBMITTER: Mugal CF 

PROVIDER: S-EPMC3218846 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature