Evidence map›Paper›PMID 29499164›Full record

ArticleAmerican journal of human genetics2018

Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease.

Paul W Hook, Sarah A McClymont, Gabrielle H Cannon, William D Law, A Jennifer Morton, Loyal A Goff, Andrew S McCallion

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.

0numbers the graph read from it
0cells of the map it votes in
83citing 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

83 citing papers in PubMed, 144 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
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  6. Article
  7. New Multiomic Studies Shed Light on Cellular Diversity and Neuronal Susceptibility in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. TARGET-seq: Linking single-cell transcriptomics of human dopaminergic neurons with their target specificity.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  13. Review
  14. Review
  15. Article
  16. Article
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  18. Review
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23 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

7 authors at 3 institutions in 2 countries.

Paul W HookMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Sarah A McClymontMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Gabrielle H CannonMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
William D LawMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
A Jennifer MortonDepartment of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3DY, UK.
Loyal A GoffMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: loyalgoff@jhmi.edu.
Andrew S McCallionMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Comparative and Molecular Pathobiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: andy@jhmi.edu.
Johns Hopkins University · USJohns Hopkins Medicine · USUniversity of Cambridge · GB

Funding

Predoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6M
Development of a Neuronal Regulatory LexiconR01NS062972 · NINDS · JOHNS HOPKINS UNIVERSITY · PI MCCALLION, ANDREW S · 2009 to 2018
$4.1M
Neuropsychiatric Disease-focused Exploration of Neuronal Regulatory LandscapesR01MH106522 · NIMH · JOHNS HOPKINS UNIVERSITY · PI MCCALLION, ANDREW S · 2016 to 2021
$3.0M
NIGMS NIH HHS T32 GM007814NIMH NIH HHS R01 MH106522NINDS NIH HHS R01 NS062972
6 · The paper itself

Abstract

Genetic variation modulating risk of sporadic Parkinson disease (PD) has been primarily explored through genome-wide association studies (GWASs). However, like many other common genetic diseases, the impacted genes remain largely unknown. Here, we used single-cell RNA-seq to characterize dopaminergic (DA) neuron populations in the mouse brain at embryonic and early postnatal time points. These data facilitated unbiased identification of DA neuron subpopulations through their unique transcriptional profiles, including a postnatal neuroblast population and substantia nigra (SN) DA neurons. We use these population-specific data to develop a scoring system to prioritize candidate genes in all 49 GWAS intervals implicated in PD risk, including genes with known PD associations and many with extensive supporting literature. As proof of principle, we confirm that the nigrostriatal pathway is compromised in Cplx1-null mice. Ultimately, this systematic approach establishes biologically pertinent candidates and testable hypotheses for sporadic PD, informing a new era of PD genetic research.

Indexed as

Genetic Association StudiesSequence Analysis, RNAAnimalsCell SeparationDopaminergic NeuronsGene Regulatory NetworksGenetic LociGenetic MarkersGenome-Wide Association StudyMice, KnockoutParkinson DiseaseSingle-Cell AnalysisSubstantia NigraGenetic MarkersComplexin 1dopaminergic neuronsgene regulatory networksgenome-wide association studiesmouseParkinson diseasesingle-cell RNA sequencingsubstantia nigra

Identifiers

PMID29499164
PMCPMC5985341
OpenAlexW2623843598

What OpenQuestion holds

Textmetadata
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.