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Toward a consensus on SNP and STR mutation rates on the human Y-chromosome

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Abstract

The mutation rate on the Y-chromosome matters for estimating the time-to-the-most-recent-common-ancestor (TMRCA, i.e. haplogroup age) in population genetics, as well as for forensic, medical, and genealogical studies. Large-scale sequencing efforts have produced several independent estimates of Y-SNP mutation rates. Genealogical, or pedigree, rates tend to be slightly faster than evolutionary rates obtained from ancient DNA or calibrations using dated (pre)historical events. It is, therefore, suggested to report TMRCAs using an envelope defined by the average aDNA-based rate and the average pedigree-based rate. The current estimate of the “envelope rate” is 0.75–0.89 substitutions per billion base pairs per year. The available Y-SNP mutation rates can be applied to high-coverage data from the entire X-degenerate region, but other datasets may demand recalibrated rates. While a consensus on Y-SNP rates is approaching, the debate on Y-STR rates has continued for two decades, because multiple genealogical rates were consistent with each other but three times faster than the single evolutionary estimate. Applying Y-SNP and Y-STR rates to the same haplogroups recently helped to clarify the issue. Genealogical and evolutionary STR rates typically provide lower and upper bounds of the “true” (SNP-based) age. The genealogical rate often—but not always—works well for haplogroups less than 7000 years old. The evolutionary rate, although calibrated using recent events, inflates ages of young haplogroups and deflates the age of the entire Y-chromosomal tree, but often provides reasonable estimates for intermediate ages (old haplogroups). Future rate estimates and accumulating case studies should further clarify the Y-SNP rates.

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Acknowledgements

I thank P. Francalacci, E. Balanovska, V. Zaporozhchenko and anonymous reviewers for helpful discussions, A. Rubanovich for consultations on statistical questions, T. Kivisild and M. Karmin for sharing their raw data on STR-based haplogroup ages, and A. Agdzhoyan and G. Stepanov for assistance in preparing the figures.

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  1. Vavilov Institute of General Genetics, Moscow, Russia

    O. Balanovsky

  2. Research Centre for Medical Genetics, Moscow, Russia

    O. Balanovsky

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This study received support from the Russian Science Foundation Grant 17-14-01345.

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Balanovsky, O. Toward a consensus on SNP and STR mutation rates on the human Y-chromosome. Hum Genet 136, 575–590 (2017). https://doi.org/10.1007/s00439-017-1805-8

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