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DeBoever, Christopher; Li, He; Jakubosky, David; Benaglio, Paola; Reyna, Joaquin; Olson, Katrina M.; Huang, Hui; Biggs, William; Sandoval, Efren; D’Antonio, Matteo; Jepsen, Kristen; Matsui, Hiroko; Arias, Angelo; Ren, Bing; Nariai, Naoki; Smith, Erin N.; D’Antonio-Chronowska, Agnieszka; Farley, Emma K.; Frazer, Kelly A.
Cell stem cell, 04/2017, Volume: 20, Issue: 4Journal Article
In this study, we used whole-genome sequencing and gene expression profiling of 215 human induced pluripotent stem cell (iPSC) lines from different donors to identify genetic variants associated with RNA expression for 5,746 genes. We were able to predict causal variants for these expression quantitative trait loci (eQTLs) that disrupt transcription factor binding and validated a subset of them experimentally. We also identified copy-number variant (CNV) eQTLs, including some that appear to affect gene expression by altering the copy number of intergenic regulatory regions. In addition, we were able to identify effects on gene expression of rare genic CNVs and regulatory single-nucleotide variants and found that reactivation of gene expression on the X chromosome depends on gene chromosomal position. Our work highlights the value of iPSCs for genetic association analyses and provides a unique resource for investigating the genetic regulation of gene expression in pluripotent cells. Display omitted •Profiling of 215 hiPSC lines enables eQTL mapping of gene expression variation•iPSC eQTLs are enriched in stem cell gene regulatory regions and affect TF binding•Copy-number eQTLs in intergenic regulatory regions also affect expression•Whole-genome sequencing highlights the influence of rare and copy-number variants Working as part of the NextGen consortium, DeBoever et al. use whole-genome and RNA sequencing to map expression quantitative trait loci in a set of 215 human induced pluripotent stem cell lines. These genotype-expression associations provide a foundation for understanding the genetic regulation of gene expression in pluripotent cells.
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