Widespread Transcriptional Scanning in the Testis Modulates Gene Evolution Rates.,Cell

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Widespread Transcriptional Scanning in the Testis Modulates Gene Evolution Rates.
Cell ( IF 45.5 ) Pub Date : 2020-01-23 , DOI: 10.1016/j.cell.2019.12.015
Bo Xia ₁ , Yun Yan ₂ , Maayan Baron ₂ , Florian Wagner ₂ , Dalia Barkley ₂ , Marta Chiodin ₂ , Sang Y Kim ₃ , David L Keefe ₄ , Joseph P Alukal ₄ , Jef D Boeke ₅ , Itai Yanai ₆

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The testis expresses the largest number of genes of any mammalian organ, a finding that has long puzzled molecular biologists. Our single-cell transcriptomic data of human and mouse spermatogenesis provide evidence that this widespread transcription maintains DNA sequence integrity in the male germline by correcting DNA damage through a mechanism we term transcriptional scanning. We find that genes expressed during spermatogenesis display lower mutation rates on the transcribed strand and have low diversity in the population. Moreover, this effect is fine-tuned by the level of gene expression during spermatogenesis. The unexpressed genes, which in our model do not benefit from transcriptional scanning, diverge faster over evolutionary timescales and are enriched for sensory and immune-defense functions. Collectively, we propose that transcriptional scanning shapes germline mutation signatures and modulates mutation rates in a gene-specific manner, maintaining DNA sequence integrity for the bulk of genes but allowing for faster evolution in a specific subset.

中文翻译：

睾丸中的广泛转录扫描调节基因进化速率。

睾丸表达了任何哺乳动物器官中数量最多的基因，这一发现长期困扰着分子生物学家。我们的人类和小鼠精子发生的单细胞转录组数据提供了证据，表明这种广泛的转录通过我们称为转录扫描的机制纠正DNA损伤，从而维持了雄性种系中DNA序列的完整性。我们发现，在精子发生过程中表达的基因在转录链上显示出较低的突变率，并且在种群中具有较低的多样性。此外，通过生精过程中基因表达的水平可以微调这种效果。未表达的基因，在我们的模型中没有从转录扫描中受益，在进化的时间尺度上更快地分化，并丰富了感觉和免疫防御功能。总的来说，

更新日期：2020-01-23

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