Nat Rev Genet. 2000 Oct;1(1):40-7.

The origins, patterns and implications of human spontaneous mutation.

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Genetics Department, University of Wisconsin, Madison, Wisconsin 53706, USA. jfcrow@facstaff.wisc.edu

Abstract

The germline mutation rate in human males, especially older males, is generally much higher than in females, mainly because in males there are many more germ-cell divisions. However, there are some exceptions and many variations. Base substitutions, insertion-deletions, repeat expansions and chromosomal changes each follow different rules. Evidence from evolutionary sequence data indicates that the overall rate of deleterious mutation may be high enough to have a large effect on human well-being. But there are ways in which the impact of deleterious mutations can be mitigated.

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