ArticleMolecular biology and evolution2020
Higher Germline Mutagenesis of Genes with Stronger Testis Expressions Refutes the Transcriptional Scanning Hypothesis.
Article in Molecular biology and evolution, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
- Article
- Defective transcription of AAGAG satellite DNA causes sex-ratio meiotic drive in Drosophila.Nature communications · 2026Article
- Defective transcription of AAGAG satellite DNA causes sex-ratio meiotic drive inbioRxiv : the preprint server for biology · 2026Article
- How Does Transcription-Associated Mutagenesis Shape tRNA Microevolution?Genome biology and evolution · 2026Article
- Spontaneous Mutations Occur More in Highly Transcribed Regions in Daphnia.Genome biology and evolution · 2026Article
- Transcription start sites experience a high influx of heritable variants fueled by early development.Nature communications · 2025Article
- A comprehensive analysis of Atlantic salmon gonad and pituitary transcriptomes identifies novel players in sexual maturation.BMC genomics · 2025Article
- Linear covariation between germline and somatic mutation rates across ciliates and mammals.Current biology : CB · 2025Article
- Sex differences in transcription-associated mutagenesis in the human germline.bioRxiv : the preprint server for biology · 2025Article
- The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis.eLife · 2024Article
- A new era of mutation rate analyses: Concepts and methods.Zoological research · 2024Review
- Genome-wide probing of eukaryotic nascent RNA structure elucidates cotranscriptional folding and its antimutagenic effect.Nature communications · 2023Article
- What Has Genomics Taught An Evolutionary Biologist?Genomics, proteomics & bioinformatics · 2023Review
- The impact of paternal age on new mutations and disease in the next generation.Fertility and sterility · 2022Review
- Decoding the Spermatogenesis Program: New Insights from Transcriptomic Analyses.Annual review of genetics · 2022Review
- Is the Mutation Rate Lower in Genomic Regions of Stronger Selective Constraints?Molecular biology and evolution · 2022Article
- Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage.Human genetics · 2022Article
- Article
- Mitochondrial mutations in Caenorhabditis elegans show signatures of oxidative damage and an AT-bias.Genetics · 2021Article
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2 authors at 1 institution in 1 country.
Funding
Abstract
Why are more genes expressed in the testis than in any other organ in mammals? The recently proposed transcriptional scanning hypothesis posits that transcription alleviates mutagenesis through transcription-coupled repair so has been selected in the testis to modulate the germline mutation rate in a gene-specific manner. Here, we show that this hypothesis is theoretically untenable because the selection would be too weak to have an effect in mammals. Furthermore, the analysis purported to support the hypothesis did not control known confounding factors and inappropriately excluded genes with no observed de novo mutations. After remedying these problems, we find the human germline mutation rate of a gene to rise with its testis expression level. This trend also exists for inferred coding strand-originated mutations, suggesting that it arises from transcription-associated mutagenesis. Furthermore, the testis expression level of a gene robustly correlates with its overall expression in other organs, nullifying the need to explain the testis silencing of a minority of genes by adaptive germline mutagenesis. Taken together, our results demonstrate that human testis transcription increases the germline mutation rate, rejecting the transcriptional scanning hypothesis of extensive gene expressions in the mammalian testis.
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