How much do we know about spontaneous human mutation rates?

@article{Crow1993HowMD,
  title={How much do we know about spontaneous human mutation rates?},
  author={James F. Crow},
  journal={Environmental and Molecular Mutagenesis},
  year={1993},
  volume={21}
}
  • J. Crow
  • Published 1993
  • Biology
  • Environmental and Molecular Mutagenesis
The much larger number of cell divisions between zygote and sperm than between zygote and egg, the increased age of fathers of children with new dominant mutations, and the greater evolution rate of pseudogenes on the Y chromosome than of those on autosomes all point to a much higher mutation rate in human males than in females, as first pointed out by Haldane [Ann Eugen 13:262–271, 1947] in his classical study of X‐linked hemophilia. The age of the father is the main factor determining the… 

The high spontaneous mutation rate: is it a health risk?

  • J. Crow
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1997
The human mutation rate for base substitutions is much higher in males than in females and increases with paternal age. This effect is mainly, if not entirely, due to the large number of cell

Characteristics, causes and evolutionary consequences of male-biased mutation

  • H. Ellegren
  • Biology
    Proceedings of the Royal Society B: Biological Sciences
  • 2006
The concept of male-biased mutation has implications for important aspects of evolutionary biology such as mate choice in relation to mutation load, sexual selection and the maintenance of genetic diversity despite strong directional selection.

Major impacts of gonadal mosaicism on hereditary risk estimation, origin of hereditary diseases, and evolution

Computer simulations of control experiments involving 57.4 million offspring, based on vast amounts of historical data, show that because of gonadal mosaicism, the total frequency of spontaneous mutations per generation is much higher than has been thought.

Mutation load and human longevity.

Measurements of spontaneous rates of mutations in the recent past and the near future

The methods used in the past are reviewed with an emphasis on next generation sequencing, which may soon make the accurate measurement of spontaneous mutation rates a matter of routine.

Variation in genome-wide mutation rates within and between human families

This is the first direct comparative analysis of male and female germline mutation rates from the complete genome sequences of two parent-offspring trios, and observations suggest considerable variation in mutation rates within and between families.

Comparisons of Spontaneous Mutation Rates and Estimates of Numbers of Cell Divisions in the Germlines of Three Metazoans.

Comparisons of mutation rates per cell division, along with data regarding parental origin of human mutations and male-driven molecular evolution, provide support for an effect of cell division upon mutation rates, but with additional factors which cause time-dependent mechanism for mutation rates.

The distribution of fitness effects of new mutations

The distribution of fitness effects (DFE) of new mutations is a fundamental entity in genetics that has implications ranging from the genetic basis of complex disease to the stability of the
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