Evidence map›Paper›PMID 29212019›Full record

ArticleCell reports2017

Pervasive within-Mitochondrion Single-Nucleotide Variant Heteroplasmy as Revealed by Single-Mitochondrion Sequencing.

Jacqueline Morris, Young-Ji Na, Hua Zhu, Jae-Hee Lee, Hoa Giang, Alexandra V Ulyanova, Gordon H Baltuch, Steven Brem, H Isaac Chen, David K Kung and 7 more

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
3.1field-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

37 citing papers in PubMed, 127 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Recent advances in single-cell subcellular sampling.Chemical communications (Cambridge, England) · 2023
    Review
  14. High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  15. Review
  16. A subcellular cookie cutter for spatial genomics in human tissue.Analytical and bioanalytical chemistry · 2022
    Article
  17. Article
  18. Review
  19. Article
  20. New insights into mitophagy and stem cells.Stem cell research & therapy · 2021
    Review
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

17 authors at 1 institution in 1 country.

Jacqueline MorrisDepartment of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Young-Ji NaDepartment of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA.
Hua ZhuDepartment of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Jae-Hee LeeDepartment of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Hoa GiangDepartment of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA.
Alexandra V UlyanovaDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Gordon H BaltuchDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Steven BremDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
H Isaac ChenDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
David K KungDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Timothy H LucasDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Donald M O'RourkeDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
John A WolfDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
M Sean GradyDepartment of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Jai-Yoon SulDepartment of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Junhyong KimDepartment of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA.
James EberwineDepartment of Pharmacology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: eberwine@upenn.edu.
University of Pennsylvania · US

Funding

Role of Single Cell mRNA Variation in Systems Associated Electrically Excitable CU01MH098953 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI EBERWINE, JAMES H, KIM, JUNHYONG · 2012 to 2016
$11.4M
NRSA Training CoreTL1TR001880 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI MEAGHER, EMMA ANNE · 2016 to 2025
$10.0M
Nuclear pre-mRNA analysis of single cells in brain sliceR33MH106637 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI SUL, JAI-YOON · 2014 to 2016
$1.2M
NCATS NIH HHS TL1 TR001880NIMH NIH HHS R33 MH106637NIMH NIH HHS U01 MH098953
6 · The paper itself

Abstract

A number of mitochondrial diseases arise from single-nucleotide variant (SNV) accumulation in multiple mitochondria. Here, we present a method for identification of variants present at the single-mitochondrion level in individual mouse and human neuronal cells, allowing for extremely high-resolution study of mitochondrial mutation dynamics. We identified extensive heteroplasmy between individual mitochondrion, along with three high-confidence variants in mouse and one in human that were present in multiple mitochondria across cells. The pattern of variation revealed by single-mitochondrion data shows surprisingly pervasive levels of heteroplasmy in inbred mice. Distribution of SNV loci suggests inheritance of variants across generations, resulting in Poisson jackpot lines with large SNV load. Comparison of human and mouse variants suggests that the two species might employ distinct modes of somatic segregation. Single-mitochondrion resolution revealed mitochondria mutational dynamics that we hypothesize to affect risk probabilities for mutations reaching disease thresholds.

Indexed as

AnimalsDNA, MitochondrialHigh-Throughput Nucleotide SequencingHumansMiceMitochondriaMutationPolymorphism, Single NucleotideSequence Analysis, DNADNA, Mitochondrialhuman neuronmouse neuronsingle cellsingle mitochondrionsingle-nucleotide variation

Identifiers

PMID29212019
PMCPMC5771502
OpenAlexW2773806392

What OpenQuestion holds

Textmetadata
LicenceTDM
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.