ReviewBMC biology2017
Dosage-sensitive genes in evolution and disease.
Review in BMC biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
85 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Copy number variant scores are associated with cerebrovascular pathology in aging.Molecular psychiatry · 2026Article
- Inherited long telomeres induce a genome-wide transcriptional response in budding yeast.Genetics · 2026Article
- The genomic origins and evolutionary path to a key innovation in the world's most venomous snakes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Mixed Evidence that Dosage Sensitive Genes Drive Global Dosage Compensation in Flour Beetles.Genome biology and evolution · 2026Article
- Determinants of functional burden pleiotropy and gene dosage responses across human traits.Nature communications · 2026Article
- A comprehensive and accessible database of jawed-vertebrate ohnologs.Science advances · 2026Article
- Protein Self-Interaction in Cellular Function and Network Evolution: Molecular Mechanisms, AI-Driven Insights, and Therapeutic Potentials.International journal of molecular sciences · 2026Review
- The genomic origins and evolutionary path to a key innovation in the world's most venomous snakes.bioRxiv : the preprint server for biology · 2026Article
- A Comprehensive Literature Review and Case Report of Severe Lymphoproliferative Disease Secondary toJournal of clinical medicine · 2026Article
- Segmental copy number amplifications are more stable than aneuploidies in the absence of selection.Molecular biology and evolution · 2026Article
- PGE2 regulates ferroptosis and osteogenesis of MC3T3-E1 cells via NOS2.Scientific reports · 2026Article
- The distribution of fitness effects of new mutations in regulatory regions of thebioRxiv : the preprint server for biology · 2026Article
- Engineering a human-based translational activator for targeted protein expression restoration.Nucleic acids research · 2026Article
- Protein-protein interactions are a major source of epistasis in genetic interaction networks.Nature communications · 2026Article
- Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro.Nature communications · 2026Article
- GeNePi: a graphics processing unit enhanced next-generation bioinformatics pipeline for whole-genome sequencing analysis.Briefings in bioinformatics · 2026Article
- Revisiting ancient whole-genome duplications in the seed and flowering plants through the lens of dosage-sensitive genes.Science advances · 2026Article
- Structural Mutations Set an Equilibrium Noncoding Genome Fraction.Molecular biology and evolution · 2025Article
- scKGBERT: a knowledge-enhanced foundation model for single-cell transcriptomics.Genome biology · 2025Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
For a subset of genes in our genome a change in gene dosage, by duplication or deletion, causes a phenotypic effect. These dosage-sensitive genes may confer an advantage upon copy number change, but more typically they are associated with disease, including heart disease, cancers and neuropsychiatric disorders. This gene copy number sensitivity creates characteristic evolutionary constraints that can serve as a diagnostic to identify dosage-sensitive genes. Though the link between copy number change and disease is well-established, the mechanism of pathogenicity is usually opaque. We propose that gene expression level may provide a common basis for the pathogenic effects of many copy number variants.
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What OpenQuestion holds
Registered trials
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.