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

Nat Genet. 2017 Apr;49(4):625-634. doi: 10.1038/ng.3793. Epub 2017 Feb 20.

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.

MeSH terms

  • Cells, Cultured
  • DNA, Intergenic / genetics
  • Gene Dosage / genetics
  • Genetic Variation / genetics*
  • Genome-Wide Association Study / methods
  • HEK293 Cells
  • Humans
  • Mutagenesis / genetics*
  • Quantitative Trait Loci / genetics*
  • Regulatory Elements, Transcriptional / genetics*

Substances

  • DNA, Intergenic