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Article

Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells.

Molecular biology and evolution - 7 Jan 2022

Jagoda Evelyn, Xue James R, Reilly Steven K, Dannemann Michael, Racimo Fernando, Huerta-Sanchez Emilia, Sankararaman Sriram, Kelso Janet, Pagani Luca, Sabeti Pardis C, Capellini Terence D

Abstract excerpt

Although some variation introgressed from Neanderthals has undergone selective sweeps, little is known about its functional significance. We used a Massively Parallel Reporter Assay (MPRA) to assay 5,353 high-frequency introgressed variants for their ability to modulate the gene expression within 170 bp of endogenous sequence. We identified 2,548 variants in active putative cis-regulatory elements (CREs) and 292...

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Identifiers

PMID: 34662402
DOI: 10.1093/molbev/msab304
PMCID: PMC8760939

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