Evidence map›Paper›PMID 28235201›Full record

ArticleCell2017

Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression.

Rajiv C McCoy, Jon Wakefield, Joshua M Akey

Open access · bronzeAbstract read
In one paragraph

Article in Cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed
11.0field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

86 citing papers in PubMed, 214 citations in OpenAlex.

  1. Article
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  14. Article
  15. Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025
    Review
  16. Review
  17. Article
  18. Review
  19. Article
  20. Article

26 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Rajiv C McCoyDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Jon WakefieldDepartment of Statistics, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Joshua M AkeyDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: akeyj@uw.edu.
University of Washington · US

Funding

INTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2M
LIMBIC &MEDULLARY MECH. IN COCAINE-RELATED SUDDEN DEATHR01DA006227 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C. · 1990 to 2012
$3.7M
Epigenetic Marks of Cocaine AddictionR01DA033684 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C., TURECKI, GUSTAVO · 2011 to 2015
$3.6M
Identification and interpretation of introgressed hominin DNA in modern human genomesR01GM110068 · NIGMS · UNIVERSITY OF WASHINGTON · PI AKEY, JOSHUA MICHAEL · 2014 to 2024
$2.6M
Methods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3M
Comprehensively assessing human somatic variability and its influence on gene expU01HG007591 · NHGRI · UNIVERSITY OF WASHINGTON · PI AKEY, JOSHUA MICHAEL · 2014 to 2016
$2.3M
Harnessing GTEx to Create Transcriptome Knowledge and Inform Disease BiologyR01MH101820 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2013 to 2015
$2.3M
Identification and validation of cell specific eQTLs by Bayesian modelingR01MH101822 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BROWN, CHRISTOPHER DAVID, ENGELHARDT, BARBARA · 2013 to 2016
$1.9M
Genetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3M
MODELING THE EFFECTS OF STRUCTURAL VARIATION IN GTEX DATA AND MENDELIAN DISEASER01MH101810 · NIMH · WASHINGTON UNIVERSITY · PI CONRAD, DONALD F. · 2013 to 2016
$1.3M
Systems approaches to link tissue-specific expression to diseaseR01MH101819 · NIMH · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2013 to 2015
$1.3M
Genome-Wide Analysis of Adaptive Evolution in HumansR01GM076036 · NIGMS · UNIVERSITY OF WASHINGTON · PI AKEY, JOSHUA MICHAEL · 2006 to 2010
$1.3M
NHGRI NIH HHS T32 HG000035NHGRI NIH HHS U01 HG007591NIDA NIH HHS R01 DA006227NIDA NIH HHS R01 DA033684NIGMS NIH HHS R01 GM076036NIGMS NIH HHS R01 GM110068NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825
6 · The paper itself

Abstract

Regulatory variation influencing gene expression is a key contributor to phenotypic diversity, both within and between species. Unfortunately, RNA degrades too rapidly to be recovered from fossil remains, limiting functional genomic insights about our extinct hominin relatives. Many Neanderthal sequences survive in modern humans due to ancient hybridization, providing an opportunity to assess their contributions to transcriptional variation and to test hypotheses about regulatory evolution. We developed a flexible Bayesian statistical approach to quantify allele-specific expression (ASE) in complex RNA-seq datasets. We identified widespread expression differences between Neanderthal and modern human alleles, indicating pervasive cis-regulatory impacts of introgression. Brain regions and testes exhibited significant downregulation of Neanderthal alleles relative to other tissues, consistent with natural selection influencing the tissue-specific regulatory landscape. Our study demonstrates that Neanderthal-inherited sequences are not silent remnants of ancient interbreeding but have measurable impacts on gene expression that contribute to variation in modern human phenotypes.

Indexed as

Evolution, MolecularGene ExpressionAnimalsBrainGene Expression RegulationHumansMaleNeanderthalsOrgan SpecificityPolymorphism, Single NucleotideQuantitative Trait LociTestisallele-specific expressionarchaic homininevolutiongene flowgene regulationintrogressionRNA-seq

Identifiers

PMID28235201
PMCPMC6219754
OpenAlexW2594204182

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.