Evidence map›Paper›PMID 25340786›Full record

ArticlePloS one2014

Hybrid mice reveal parent-of-origin and Cis- and trans-regulatory effects in the retina.

Susan Q Shen, Ernest Turro, Joseph C Corbo

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

16 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Intraspecific gene regulation in cis- and trans.Evolution; international journal of organic evolution · 2025
    Review
  5. Article
  6. Article
  7. Environmentally robustProceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  8. Article
  9. Article
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  11. Mapping theProceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  12. Article
  13. Article
  14. Article
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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 2 institutions in 2 countries.

Susan Q ShenDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America.
Ernest TurroCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, United Kingdom; Department of Haematology, University of Cambridge, National Health Service Blood and Transplant, Cambridge, United Kingdom.
Joseph C CorboDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America.
Washington University in St. Louis · USUniversity of Cambridge · GB

Funding

Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI AIMEE S JAMES · 2001 to 2026
$128.0M
Washington University Institute of Clinical and Translational Sciences (UL1)UL1RR024992 · NCRR · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2007 to 2011
$45.4M
Research Training Program in the Vision SciencesT32EY013360 · NEI · WASHINGTON UNIVERSITY · PI SHIMING CHEN, Daniel Kerschensteiner · 2000 to 2026
$5.6M
QUANTITATIVE ANALYSIS AND ENGINEERING OF THE PHOTORECEPTOR TRANSCRIPTION NETWORKR01EY018826 · NEI · WASHINGTON UNIVERSITY · PI CORBO, JOSEPH · 2008 to 2012
$1.9M
MASSIVELY PARALLEL CIS-REGULATORY ELEMENT ANALYSIS IN MAMMALIAN CELLSR01HG006790 · NHGRI · WASHINGTON UNIVERSITY · PI COHEN, BARAK A, CORBO, JOSEPH · 2012 to 2014
$1.1M
NCI NIH HHS P30 CA091842NCRR NIH HHS UL1 RR024992NEI NIH HHS R01 EY018826NEI NIH HHS T32 EY013360NHGRI NIH HHS R01 HG006790
6 · The paper itself

Abstract

A fundamental challenge in genomics is to map DNA sequence variants onto changes in gene expression. Gene expression is regulated by cis-regulatory elements (CREs, i.e., enhancers, promoters, and silencers) and the trans factors (e.g., transcription factors) that act upon them. A powerful approach to dissecting cis and trans effects is to compare F1 hybrids with F0 homozygotes. Using this approach and taking advantage of the high frequency of polymorphisms in wild-derived inbred Cast/EiJ mice relative to the reference strain C57BL/6J, we conducted allele-specific mRNA-seq analysis in the adult mouse retina, a disease-relevant neural tissue. We found that cis effects account for the bulk of gene regulatory divergence in the retina. Many CREs contained functional (i.e., activating or silencing) cis-regulatory variants mapping onto altered expression of genes, including genes associated with retinal disease. By comparing our retinal data with previously published liver data, we found that most of the cis effects identified were tissue-specific. Lastly, by comparing reciprocal F1 hybrids, we identified evidence of imprinting in the retina for the first time. Our study provides a framework and resource for mapping cis-regulatory variants onto changes in gene expression, and underscores the importance of studying cis-regulatory variants in the context of retinal disease.

Indexed as

Hybridization, GeneticAnimalsChromosome MappingCrosses, GeneticFemaleGene Expression ProfilingGene Expression RegulationGene SilencingGenomeGenomic ImprintingLiverMaleMice, Inbred C57BLOrgan SpecificityPhotoreceptor Cells, VertebrateRegulatory Sequences, Nucleic Acid

Identifiers

PMID25340786
PMCPMC4207689
OpenAlexW2020641348

What OpenQuestion holds

Textmetadata
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.