Evidence map›Paper›PMID 20548783›Full record

ArticlePloS one2010

Genomic features of the human dopamine transporter gene and its potential epigenetic States: implications for phenotypic diversity.

Elena Shumay, Joanna S Fowler, Nora D Volkow

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 7% 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

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Epigenetic Analysis of the Dopamine Transporter GeneInternational journal of molecular sciences · 2023
    Article
  7. DNA Methylation of the Dopamine TransporterInternational journal of molecular sciences · 2023
    Article
  8. Methylation in the Promoter Region of the Dopamine TransporterInternational journal of environmental research and public health · 2022
    Article
  9. Article
  10. Influence ofGenes · 2021
    Article
  11. Review
  12. Article
  13. Observational
  14. Article
  15. Article
  16. Article
  17. Article
  18. 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 1 country.

Elena ShumayBrookhaven National Laboratory, Medical Department, Upton, New York, USA. eshumay@bnl.gov
Joanna S Fowler
Nora D Volkow
Brookhaven National Laboratory · USNational Institutes of Health · US

Funding

Neurobiology of Substance Abuse and AddictionZIAAA000550 · NIAAA · NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM · PI VOLKOW, NORA D. · 2009 to 2025
$115.1M
Epigenetic Status of MAOA Gene as a Module of Translational Behavioral ResearchK01DA025280 · NIDA · BROOKHAVEN SCIENCE ASSOC-BROOKHAVEN LAB · PI SHUMAY, ELENA · 2009 to 2013
$781k
Role of Genotype and Maternal Smoking on Brain MAO AK05DA020001 · NIDA · BROOKHAVEN SCIENCE ASSOC-BROOKHAVEN LAB · PI FOWLER, JOANNA S · 2005 to 2009
$685k
Intramural NIH HHSNIDA NIH HHS K01 DA025280NIDA NIH HHS K01 DA025280-01A1NIDA NIH HHS K05 DA020001NIDA NIH HHS K05 DA20001
6 · The paper itself

Abstract

Human dopamine transporter gene (DAT1 or SLC6A3) has been associated with various brain-related diseases and behavioral traits and, as such, has been investigated intensely in experimental- and clinical-settings. However, the abundance of research data has not clarified the biological mechanism of DAT regulation; similarly, studies of DAT genotype-phenotype associations yielded inconsistent results. Hence, our understanding of the control of the DAT protein product is incomplete; having this knowledge is critical, since DAT plays the major role in the brain's dopaminergic circuitry. Accordingly, we reevaluated the genomic attributes of the SLC6A3 gene that might confer sensitivity to regulation, hypothesizing that its unique genomic characteristics might facilitate highly dynamic, region-specific DAT expression, so enabling multiple regulatory modes. Our comprehensive bioinformatic analyzes revealed very distinctive genomic characteristics of the SLC6A3, including high inter-individual variability of its sequence (897 SNPs, about 90 repeats and several CNVs spell out all abbreviations in abstract) and pronounced sensitivity to regulation by epigenetic mechanisms, as evident from the GC-bias composition (0.55) of the SLC6A3, and numerous intragenic CpG islands (27 CGIs). We propose that this unique combination of the genomic features and the regulatory attributes enables the differential expression of the DAT1 gene and fulfills seemingly contradictory demands to its regulation; that is, robustness of region-specific expression and functional dynamics.

Indexed as

Epigenesis, GeneticDopamine Plasma Membrane Transport ProteinsHumansPhenotypePolymorphism, Single NucleotideDopamine Plasma Membrane Transport Proteins

Identifiers

PMID20548783
PMCPMC2883569
OpenAlexW2089924047

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.