Substitution rate variation at human CpG sites correlates with non-CpG divergence,methylation level and GC content |
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Authors: | Carina F Mugal Hans Ellegren |
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Institution: | 1.Department of Evolutionary Biology,Uppsala University,Uppsala,Sweden |
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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. |
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