Evidence map›Paper›PMID 36640362›Full record

ArticleCell reports2023

Random allelic expression in the adult human body.

Stephanie N Kravitz, Elliott Ferris, Michael I Love, Alun Thomas, Aaron R Quinlan, Christopher Gregg

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
6.2field-weighted citation impact, top 3% 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

25 citing papers in PubMed, 40 citations in OpenAlex.

  1. Article
  2. Review
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  13. Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.Journal of molecular medicine (Berlin, Germany) · 2025
    Article
  14. ASPEN: Robust detection of allelic dynamics in single cell RNA-seq.bioRxiv : the preprint server for biology · 2025
    Article
  15. Article
  16. Article
  17. Article
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  19. Article
  20. Beyond the "Dominant" and "Recessive" Patterns of Inheritance.International journal of molecular sciences · 2024
    Article
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

6 authors at 2 institutions in 1 country.

Stephanie N KravitzDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA; Neurobiology, University of Utah, Salt Lake City, UT, USA.
Elliott FerrisNeurobiology, University of Utah, Salt Lake City, UT, USA.
Michael I LoveDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Alun ThomasDepartment of Internal Medicine, Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Aaron R QuinlanDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Christopher GreggDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA; Neurobiology, University of Utah, Salt Lake City, UT, USA. Electronic address: chris.gregg@neuro.utah.edu.
University of Utah · USUniversity of North Carolina at Chapel Hill · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
The Nature and Function of Genomic Imprinting in Monoaminergic NeuronsR01MH109577 · NIMH · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI GREGG, CHRISTOPHER · 2016 to 2025
$5.6M
New algorithms and tools for large-scale genomic analysesR01HG012252 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Aaron R Quinlan · 2022 to 2026
$3.2M
Noncoding Elements Shaping Brain AgingR01AG064013 · NIA · UNIVERSITY OF UTAH · PI GREGG, CHRIS · 2019 to 2023
$1.9M
Allelic regulatory mechanisms in the brainR21MH118570 · NIMH · UNIVERSITY OF UTAH · PI GREGG, CHRIS · 2019 to 2020
$419k
Functions and Mechanisms of Epigenetic Allelic Effects in the BrainR21MH120468 · NIMH · UNIVERSITY OF UTAH · PI GREGG, CHRIS · 2019 to 2020
$419k
NCATS NIH HHS UL1 TR002538NHGRI NIH HHS R01 HG012252NIA NIH HHS R01 AG064013NIMH NIH HHS R01 MH109577NIMH NIH HHS R21 MH118570NIMH NIH HHS R21 MH120468
6 · The paper itself

Abstract

Genes are typically assumed to express both parental alleles similarly, yet cell lines show random allelic expression (RAE) for many autosomal genes that could shape genetic effects. Thus, understanding RAE in human tissues could improve our understanding of phenotypic variation. Here, we develop a methodology to perform genome-wide profiling of RAE and biallelic expression in GTEx datasets for 832 people and 54 tissues. We report 2,762 autosomal genes with some RAE properties similar to randomly inactivated X-linked genes. We found that RAE is associated with rapidly evolving regions in the human genome, adaptive signaling processes, and genes linked to age-related diseases such as neurodegeneration and cancer. We define putative mechanistic subtypes of RAE distinguished by gene overlaps on sense and antisense DNA strands, aggregation in clusters near telomeres, and increased regulatory complexity and inputs compared with biallelic genes. We provide foundations to study RAE in human phenotypes, evolution, and disease.

Indexed as

ChromosomesHuman BodyAdultAllelesCell LineHumansPhenotypeagingallele-specific expressioncancerCP: Molecular biologydementiagene expressiongene regulationhuman genomerandom monoallelic expression

Identifiers

PMID36640362
PMCPMC10484211
OpenAlexW4313549727

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.