Human Stem Cell Resources Are an Inroad to Neandertal DNA Functions

被引：13

作者：

Dannemann, Michael ^{[1
,2
]}

He, Zhisong ^{[3
]}

Heide, Christian ^{[1
]}

Vernot, Benjamin ^{[1
]}

Sidow, Leila ^{[1
]}

Kanton, Sabina ^{[1
]}

Weigert, Anne ^{[1
]}

Treutlein, Barbara ^{[1
,3
]}

Paabo, Svante ^{[1
]}

Kelso, Janet ^{[1
]}

Camp, J. Gray ^{[1
,4
,5
]}

机构：

[1] Max Planck Inst Evolutionary Anthropol, Leipzig, Germany

[2] Univ Tartu, Inst Genom, Tartu, Estonia

[3] Swiss Fed Inst Technol, Dept Biosyst Sci & Engn, Basel, Switzerland

[4] Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland

[5] Univ Basel, Dept Ophthalmol, Basel, Switzerland

来源：

STEM CELL REPORTS | 2020年 / 15卷 / 01期

基金：

欧洲研究理事会;

关键词：

GENETIC-VARIATION; GENOME SEQUENCE; LANDSCAPE; RECOMBINATION; INTROGRESSION; ADAPTATION; ADMIXTURE; ANCESTRY;

D O I：

10.1016/j.stemcr.2020.05.018

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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 an 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.

引用

页码：214 / 225

页数：12

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