Sequence basis of transcription initiation in the human genome.

ABSTRACT: Transcription initiation is a process that is essential to ensuring the proper function of any gene, yet we still lack a unified understanding of sequence patterns and rules that explain most transcription start sites in the human genome. By predicting transcription initiation at base-pair resolution from sequences with a deep learning-inspired explainable model called Puffin, we show that a small set of simple rules can explain transcription initiation at most human promoters. We identify key sequence patterns that contribute to human promoter activity, each activating transcription with distinct position-specific effects. Furthermore, we explain the sequence basis of bidirectional transcription at promoters, identify the links between promoter sequence and gene expression variation acros

SUBMITTER: Dudnyk K 

PROVIDER: S-EPMC11223672 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature