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The mutation rate in human evolution and demographic inference.

Aylwyn Scally1

  • 1Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, United Kingdom.

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Estimating the human germline mutation rate is crucial for evolutionary studies. Recent advancements provide a reliable rate of 0.5×10-9 bp-1 year-1 for demographic analyses.

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Area of Science:

  • Human evolutionary genetics
  • Population genetics
  • Genomics

Background:

  • Accurate germline mutation rate estimates are vital for human evolutionary and demographic analyses.
  • Previous estimates have been a significant source of uncertainty in genetic studies.
  • Recent research has led to substantial improvements in mutation rate estimation.

Purpose of the Study:

  • To review current knowledge of the human germline mutation rate.
  • To discuss biological factors influencing the mutation rate, such as generation time and parental age.
  • To provide a recommended mutation rate for human and hominin demographic analyses.

Main Methods:

  • Review of existing literature on human germline mutation rates.
  • Analysis of biological factors impacting mutation rates across generations.
  • Evaluation of evidence for changes in mutation rates during hominin evolution.

Main Results:

  • The human germline mutation rate is now estimated with greater accuracy.
  • Biological factors like generation time and parental age significantly influence mutation rates.
  • Evidence suggests a slowdown in the mutation rate during great ape evolution, but not within recent human diversity.

Conclusions:

  • A present-day human germline mutation rate of approximately 0.5×10-9 bp-1 year-1 is recommended for demographic analyses.
  • This rate is considered reliable for human and hominin evolutionary studies.
  • No recent significant changes in the mutation rate are evident within the timescale of human genetic diversity.