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What Causes Gene Mutations?
Not surprisingly, scientists studying the human genome are finding that certain regions of our genes show more variety than others. Part of the reason for this is the rate of mutation in these regions, as our genomes replicate from one generation to the next. The processes of evolution and natural selection depend upon some degree of mutation. Generally, mutation rates in mammalian cells (including human) are predominantly dependant upon three factors:
Stability of nucleotides and susceptibility to mutagenic agents
Fidelity of DNA replication machinery (for example DNA polymerases)
Efficiency of DNA repair systems within our cells
An example of the intrinsic susceptibility is the CpG pairing phenomenon. Called a neighbor-dependent mutational process, a cytosine followed by a guanine is 10x more mutable than any other CpX or XpC pairing. This pair is found in about a third of germ-line mutational-based diseases in humans.
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