Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci

MC Canver, S Lessard, L Pinello, Y Wu, Y Ilboudo… - Nature …, 2017 - nature.com
MC Canver, S Lessard, L Pinello, Y Wu, Y Ilboudo, EN Stern, AJ Needleman, F Galactéros…
Nature genetics, 2017nature.com
Abstract Cas9-mediated, high-throughput, saturating in situ mutagenesis permits fine-
mapping of function across genomic segments. Disease-and trait-associated variants
identified in genome-wide association studies largely cluster at regulatory loci. Here we
demonstrate the use of multiple designer nucleases and variant-aware library design to
interrogate trait-associated regulatory DNA at high resolution. We developed a
computational tool for the creation of saturating-mutagenesis libraries with single or multiple …
Abstract
Cas9-mediated, high-throughput, saturating in situ mutagenesis permits fine-mapping of function across genomic segments. Disease- and trait-associated variants identified in genome-wide association studies largely cluster at regulatory loci. Here we demonstrate the use of multiple designer nucleases and variant-aware library design to interrogate trait-associated regulatory DNA at high resolution. We developed a computational tool for the creation of saturating-mutagenesis libraries with single or multiple nucleases with incorporation of variants. We applied this methodology to the HBS1L-MYB intergenic region, which is associated with red-blood-cell traits, including fetal hemoglobin levels. This approach identified putative regulatory elements that control MYB expression. Analysis of genomic copy number highlighted potential false-positive regions, thus emphasizing the importance of off-target analysis in the design of saturating-mutagenesis experiments. Together, these data establish a widely applicable high-throughput and high-resolution methodology to identify minimal functional sequences within large disease- and trait-associated regions.
nature.com