Evidence map›Paper›PMID 34356087›Full record

ReviewGenes2021

Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain.

Isabel Costantino, Juliet Nicodemus, Jerold Chun

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2021. 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
4.5field-weighted citation impact, top 5% 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, 34 citations in OpenAlex.

  1. Article
  2. Long-read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Chromosome instability and aneuploidy in the mammalian brain.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023
    Review
  11. Cytogenomic epileptology.Molecular cytogenetics · 2023
    Review
  12. Review
  13. Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022
    Review
  14. Review
  15. Review
  16. 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

3 authors at 3 institutions in 1 country.

Isabel CostantinoTranslational Neuroscience Initiative, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Juliet NicodemusTranslational Neuroscience Initiative, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Jerold ChunTranslational Neuroscience Initiative, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Discovery Institute · USSanford Burnham Prebys Medical Discovery Institute · USUniversity of California, San Diego · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007198 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHI, NEIL C, INSEL, PAUL A · 1985 to 2024
$29.3M
Toward a human adult brain cell atlas with single-cell technologiesU01MH114828 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHUN, JEROLD, REN, BING · 2018 to 2022
$8.7M
Altered reverse transcriptase-dependent gene diversification mechanisms in Alzheimer's disease brainsR01AG065541 · NIA · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI CHUN, JEROLD · 2020 to 2024
$4.8M
Transformative research on somatic gene recombination in the normal and Alzheimer's disease-related dementia brainR01AG071465 · NIA · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI CHUN, JEROLD · 2020 to 2024
$4.6M
Multidisciplinary training in basic and translational Alzheimer's disease researchT32AG066596 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 2020 to 2024
$2.2M
NIA NIH HHS R01 AG065541NIA NIH HHS R01 AG071465NIA NIH HHS T32 AG066596NIGMS NIH HHS T32 GM007198
6 · The paper itself

Abstract

Over the past 20 years, analyses of single brain cell genomes have revealed that the brain is composed of cells with myriad distinct genomes: the brain is a genomic mosaic, generated by a host of DNA sequence-altering processes that occur somatically and do not affect the germline. As such, these sequence changes are not heritable. Some processes appear to occur during neurogenesis, when cells are mitotic, whereas others may also function in post-mitotic cells. Here, we review multiple forms of DNA sequence alterations that have now been documented: aneuploidies and aneusomies, smaller copy number variations (CNVs), somatic repeat expansions, retrotransposons, genomic cDNAs (gencDNAs) associated with somatic gene recombination (SGR), and single nucleotide variations (SNVs). A catch-all term of DNA content variation (DCV) has also been used to describe the overall phenomenon, which can include multiple forms within a single cell's genome. A requisite step in the analyses of genomic mosaicism is ongoing technology development, which is also discussed. Genomic mosaicism alters one of the most stable biological molecules, DNA, which may have many repercussions, ranging from normal functions including effects of aging, to creating dysfunction that occurs in neurodegenerative and other brain diseases, most of which show sporadic presentation, unlinked to causal, heritable genes.

Indexed as

AgingAneuploidyAnimalsBrainBrain DiseasesDNA Copy Number VariationsGenomeGenomicsHumansHybrid CellsMosaicismMutationSingle-Cell AnalysisAlzheimer’s diseaseamyotrophic lateral sclerosisaneuploidycopy number variationParkinson’s diseaserepeat expansionretrotransposonssingle-nucleotide variationsomatic gene recombinationsomatic variation

Identifiers

PMID34356087
PMCPMC8305509
OpenAlexW3178574971

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.