Mutagenesis Sensitivity Mapping of Human Enhancers In Vivo

Abstract excerpt

Distant-acting enhancers are central to human development. However, our limited understanding of their functional sequence features prevents the interpretation of enhancer mutations in disease. Here, we determined the functional sensitivity to mutagenesis of human developmental enhancers in vivo. Focusing on seven enhancers active in the developing brain, heart, limb and face, we created over 1700 transgenic mice...

Topics

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• Base Pairing
• Brain
• Enhancer Elements, Genetic
• Machine Learning
• Mice
• Mice, Transgenic
• Mutagenesis
• Nucleotide Motifs

Identifiers and source

Literature Corpus work

49dade24-8b88-5c58-b367-b6640c643a39

DOI

10.1101/2024.09.06.611737