Article
In vivo mapping of mutagenesis sensitivity of human enhancers.
Nature - 1 Jul 2025
Kosicki Michael, Zhang Boyang, Hecht Vivian, Pampari Anusri, Cook Laura E, Slaven Neil, Akiyama Jennifer A, Plajzer-Frick Ingrid, Novak Catherine S, Kato Momoe, Tran Stella, Hunter Riana D, von Maydell Kianna, Barton Sarah, Beckman Erik, Zhu Yiwen, Dickel Diane E, Kundaje Anshul, Visel Axel, Pennacchio Len A
Abstract excerpt
Distant-acting enhancers are central to human development1. However, our limited understanding of their functional sequence features prevents the interpretation of enhancer mutations in disease2. Here we determined the functional sensitivity to mutagenesis of human developmental enhancers in vivo. Focusing on seven enhancers that are active in the developing brain, heart, limb and face, we created over 1,700...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.