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bioRxiv · 10.1101/282129

Widespread transcriptional scanning in testes modulates gene evolution rates

Xia, B.·Baron, M.·Yan, Y.·Wagner, F.·Kim, S. Y.·Keefe, D. L.·Alukal, J. P.·Boeke, J. D.·Yanai, I.
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Abstract

A long-standing question in molecular biology relates to why the testes express the largest number of genes relative to all other organs. Here, we report a detailed gene expression map of human spermatogenesis using single-cell RNA-Seq. Surprisingly, we found that spermatogenesis-expressed genes contain significantly fewer germline mutations than unexpressed genes, with the lowest mutation rates on the transcribed DNA strands. These results suggest a model of transcriptional scanning to reduce germline mutations by correcting DNA damage. This model also explains the rapid evolution in sensory- and immune-defense related genes, as well as in male reproduction genes. Collectively, our results indicate that widespread expression in the testes achieves a dual mechanism for maintaining the DNA integrity of most genes, while selectively promoting variation of other genes.

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Xia, B., Baron, M., Yan, Y., Wagner, F., Kim, S. Y., Keefe, D. L., Alukal, J. P., Boeke, J. D., Yanai, I.. 2018-03-14. Widespread transcriptional scanning in testes modulates gene evolution rates. https://doi.org/10.1101/282129

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