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Related Experiment Videos

Male-driven evolution of DNA sequences

L C Shimmin1, B H Chang, W H Li

  • 1Center for Demographic and Population Genetics, University of Texas, Houston 77225.

Nature
|April 22, 1993
PubMed
Summary
This summary is machine-generated.

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The male mutation rate in humans is estimated to be approximately six times higher than the female rate, supporting a male-driven DNA evolution in primates. This finding refines previous estimates and raises new questions.

Area of Science:

  • Genetics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • The mutation rate is widely believed to be higher in the male germ line due to more germ-cell divisions per generation.
  • Direct estimation of mutation rates is challenging, often relying on sex-linked genetic diseases, leading to uncertainty in the male-to-female mutation rate ratio (alpha m).
  • Previous studies suggested a large alpha m based on X-linked and autosomal gene substitution rates, but used limited, non-homologous sequences.

Purpose of the Study:

  • To directly estimate the male-to-female mutation rate ratio (alpha m) in higher primates.
  • To investigate the role of male-driven evolution in DNA sequence evolution.
  • To refine previous estimates of alpha m using homologous gene sequences.

Main Methods:

Related Experiment Videos

  • Sequencing of the last intron (approx. 1 kb) of the Y-linked zinc-finger-protein gene (ZFY) and the X-linked zinc-finger-protein gene (ZFX).
  • Comparative analysis of ZFY and ZFX intron sequences in humans, orang-utans, baboons, and squirrel monkeys.
  • Calculation of the Y/X substitution rate ratio and estimation of alpha m.

    • Main Results:

    • The ratio of substitution rates between Y-linked (ZFY) and X-linked (ZFX) introns was found to be approximately 2.3.
    • This Y/X ratio is consistent with estimates derived from synonymous substitution rates in ZFY and ZFX.
    • The estimated male-to-female mutation rate ratio (alpha m) is approximately 6, which is lower than some previous estimates.

    Conclusions:

    • The findings support the hypothesis that DNA sequence evolution in higher primates is predominantly male-driven.
    • The revised estimate of alpha m (approximately 6) provides a more refined understanding of sex-specific mutation rates.
    • The lower-than-expected alpha m value necessitates further investigation into factors influencing mutation rates and evolutionary dynamics.