Evidence map›Paper›PMID 25340765›Full record

ArticlePLoS genetics2014

Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.

Ruth B McCole, Chamith Y Fonseka, Amnon Koren, C-Ting Wu

Abstract read
In one paragraph

Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
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

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Pairing and anti-pairing: a balancing act in the diploid genome.Current opinion in genetics & development · 2016
    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

4 authors.

Ruth B McColeDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
Chamith Y FonsekaDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America; Biological and Biomedical Sciences PhD program, Harvard Medical School, Boston, Massachusetts, United States of America.
Amnon KorenDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
C-Ting WuDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.

Funding

A STUDY OF TRANSVECTION AT THE DROSOPHILA YELLOW GENER01GM061936 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WU, CHAO-TING · 2000 to 2003
$1.7M
NIGMS NIH HHS R01 GM061936NIGMS NIH HHS R01GM61936
6 · The paper itself

Abstract

Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian cell. Here we address the process by which CNVs become depleted of UCEs. We begin by showing that depletion for UCEs characterizes the most recent large-scale human CNV datasets and then find that even newly formed de novo CNVs, which have passed through meiosis at most once, are significantly depleted for UCEs. In striking contrast, CNVs arising specifically in cancer cells are, as a rule, not depleted for UCEs and can even become significantly enriched. This observation raises the possibility that CNVs that arise somatically and are relatively newly formed are less likely to have established a CNV profile that is depleted for UCEs. Alternatively, lack of depletion for UCEs from cancer CNVs may reflect the diseased state. In support of this latter explanation, somatic CNVs that are not associated with disease are depleted for UCEs. Finally, we show that it is possible to observe the CNVs of induced pluripotent stem (iPS) cells become depleted of UCEs over time, suggesting that depletion may be established through selection against UCE-disrupting CNVs without the requirement for meiotic divisions.

Indexed as

Evolution, MolecularAnimalsChromosome WalkingConserved SequenceDNA Copy Number VariationsGene DosageGenome, HumanHumansInduced Pluripotent Stem CellsMammalsNeoplasmsPluripotent Stem CellsSequence Deletion

Identifiers

PMID25340765
PMCPMC4207606

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.