%0 Journal Article %A Dannemann, Michael %A He, Zhisong %A Heide, Christian %A Vernot, Benjamin %A Sidow, Leila %A Kanton, Sabina %A Weigert, Anne %A Treutlein, Barbara %A Pääbo, Svante %A Kelso, Janet %A Camp, J. Gray %+ The Minerva Research Group for Bioinformatics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society The Minerva Research Group for Bioinformatics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society The Leipzig School of Human Origins (IMPRS), Max Planck Institute for Evolutionary Anthropology, Max Planck Society Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society Modern and Archaic Human Cell Biology, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society Single Cell Genomics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society Single Cell Genomics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society The Minerva Research Group for Bioinformatics, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society Modern and Archaic Human Cell Biology, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society %T Human stem cell resources are an inroad to Neandertal DNA functions : %G eng %U https://hdl.handle.net/21.11116/0000-0006-9363-4 %R 10.1016/j.stemcr.2020.05.018 %D 2020 %8 18.06.2020 %* Review method: peer-reviewed %X Induced pluripotent stem cells (iPSCs) from diverse humans offer the potential to study
human functional variation in controlled culture environments. A portion of this variation
originates from ancient admixture between modern humans and Neandertals, which
introduced alleles that left a phenotypic legacy on individual humans today. Here we
show that a large iPSC repository harbors extensive Neandertal DNA, including alleles
that contribute to human phenotypes and diseases, encode hundreds of amino acid
changes, and alter gene expression in specific tissues. We provide a database of the
inferred introgressed Neandertal alleles for each individual iPSC line, together with the
annotation of the predicted functional variants. We also show that transcriptomic data
from organoids generated from iPSCs can be used to track Neandertal-derived RNA
over developmental processes. Human iPSC resources provide an opportunity to
experimentally explore Neandertal DNA function and its contribution to present-day
phenotypes, and potentially study Neandertal traits. %K Induced pluripotent stem cells, Neandertal genomics, Cerebral organoids, Archaic introgression, Single-cell transcriptomics %J Stem Cell Reports %V 15 %& 214 %P 214 - 225 %I Cell Press %C Cambridge, Massachusetts %@ 2213-6711 %U https://www.biorxiv.org/content/10.1101/309658v1.full