Mammalian Male Mutation Bias: Impacts of Generation Time and Regional Variation in Substitution Rates |
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Authors: | M Paula Goetting-Minesky Kateryna D Makova |
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Institution: | (1) Department of Biology, Center for Comparative Genomics and Bioinformatics, Penn State University, 518A Mueller Lab, University Park, PA 16803, USA |
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Abstract: | In mammals, males undergo a greater number of germline cell divisions compared with females. Thus, the male germline accumulates
more DNA replication errors, which result in male mutation bias—a higher mutation rate for males than for females. The phenomenon
of male mutation bias has been investigated mostly for rodents and primates, however, it has not been studied in detail for
other mammalian orders. Here we sequenced and analyzed five introns of three genes (DBX/DBY, UTX/UTY, and ZFX/ZFY) homologous
between X and Y chromosomes in several species of perissodactyls (horses and rhinos) and of primates. Male mutation bias was
evident: substitution rate was higher for a Y chromosome intron than for its X chromosome homologue for all five intron pairs
studied. Substitution rates varied regionally among introns sequenced on the same chromosome and this variation influenced
male mutation bias inferred from each intron pair. Interestingly, we observed a positive correlation in substitution rates
between homologous X and homologous Y introns as well as between orthologous primate and perissodactyl introns. The male-to-female
mutation rate ratio estimated from concatenated sequences of five perissodactyl introns was 3.88 (95% CI = 2.90–6.07). Using
the data generated here and estimates available in the literature, we compared male mutation bias among several mammalian
orders. We conclude that male mutation bias is significantly higher for organisms with long generation times (primates, perissodactyls,
and felids) than for organisms with short generation times (e.g., rodents) since the former undergo a greater number of male
germline cell divisions.
Electronic Supplementary Material Electronic Supplementary material is available for this article at
and accessible for authorised users.
Reviewing Editor: Dr. Deborah Charlesworth] |
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Keywords: | Male mutation bias Male-driven evolution Regional variation in substitution rates Perissodactyla Generation time Mammals |
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