Evidence map›Paper›PMID 21979154›Full record

ArticleGenome biology and evolution2011

Copy-number variation: the balance between gene dosage and expression in Drosophila melanogaster.

Jun Zhou, Bernardo Lemos, Erik B Dopman, Daniel L Hartl

Open access · goldAbstract read
In one paragraph

Article in Genome biology and evolution, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 1 pooled it
7.0field-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

62 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.

  1. Copy Number Variants in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2017
    Pooled it
  2. Review
  3. Article
  4. Structural Variants and Speciation: Multiple Processes at Play.Cold Spring Harbor perspectives in biology · 2024
    Review
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  10. BLSSpeller to discover novel regulatory motifs in maize.DNA research : an international journal for rapid publication of reports on genes and genomes · 2022
    Article
  11. Article
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  13. In-Depth Sequence Analysis of Bread WheatInternational journal of molecular sciences · 2021
    Article
  14. Linking Genes to Traits in Fungi.Microbial ecology · 2021
    Article
  15. Article
  16. Article
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  20. Article

2 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

4 authors at 2 institutions in 1 country.

Jun ZhouDepartment of Organismic and Evolutionary Biology, Harvard University, USA. jzhou@oeb.harvard.edu
Bernardo Lemos
Erik B Dopman
Daniel L Hartl
Harvard University · USTufts University · US

Funding

Evolution of Genome IncompatibilitiesR01GM065169 · NIGMS · HARVARD UNIVERSITY · PI HARTL, DANIEL L · 2003 to 2011
$2.5M
Novel genomic effects of Y-linked polymorphismsR01GM084236 · NIGMS · HARVARD UNIVERSITY · PI HARTL, DANIEL L · 2009 to 2012
$1.2M
NIGMS NIH HHS GM065169NIGMS NIH HHS GM084236NIGMS NIH HHS R01 GM065169NIGMS NIH HHS R01 GM084236
6 · The paper itself

Abstract

Copy-number variants (CNVs) reshape gene structure, modulate gene expression, and contribute to significant phenotypic variation. Previous studies have revealed CNV patterns in natural populations of Drosophila melanogaster and suggested that selection and mutational bias shape genomic patterns of CNV. Although previous CNV studies focused on heterogeneous strains, here, we established a number of second-chromosome substitution lines to uncover CNV characteristics when homozygous. The percentage of genes harboring CNVs is higher than found in previous studies. More CNVs are detected in homozygous than heterozygous substitution strains, suggesting the comparative genomic hybridization arrays underestimate CNV owing to heterozygous masking. We incorporated previous gene expression data collected from some of the same substitution lines to investigate relationships between CNV gene dosage and expression. Most genes present in CNVs show no evidence of increased or diminished transcription, and the fraction of such dosage-insensitive CNVs is greater in heterozygotes. More than 70% of the dosage-sensitive CNVs are recessive with undetectable effects on transcription in heterozygotes. A deficiency of singletons in recessive dosage-sensitive CNVs supports the hypothesis that most CNVs are subject to negative selection. On the other hand, relaxed purifying selection might account for the higher number of protein-protein interactions in dosage-insensitive CNVs than in dosage-sensitive CNVs. Dosage-sensitive CNVs that are upregulated and downregulated coincide with copy-number increases and decreases. Our results help clarify the relation between CNV dosage and gene expression in the D. melanogaster genome.

Indexed as

DNA Copy Number VariationsGene DosageAllelesAnimalsComparative Genomic HybridizationDatabases, GeneticDNADown-RegulationDrosophila melanogasterGene ExpressionGene FrequencyHeterozygoteHomozygoteOligonucleotide Array Sequence AnalysisReproducibility of ResultsUp-RegulationDNA

Identifiers

PMID21979154
PMCPMC3227403
OpenAlexW2131096798

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.