Article

Transcription start sites experience a high influx of heritable variants fuelled by early development

2025-02-05

Abstract excerpt

Mutations drive evolution and genetic diversity, but the impact of transcription on germline mutagenesis remains poorly understood. Here, we identify a hypermutation phenomenon at transcription start sites in the human germline, spanning several hundred base pairs in both directions. We link this TSS mutational hotspot to divergent transcription, RNA polymerase II stalling, R-loops, and mitotic—but not meiotic—dou...

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Literature Corpus work: 076bfca7-85e0-5d2b-92c1-3336ff4e3bc9
DOI: 10.1101/2025.02.04.635982

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