ArticleBMC evolutionary biology2013
Impact of constitutional copy number variants on biological pathway evolution.
Article in BMC evolutionary biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Integrated analysis of copy number variation and genome-wide expression profiling in colorectal cancer tissues.PloS one · 2014Trial
- Genome-wide characterization of structure variations in the Xiang pig for genetic resistance to African swine fever.Virulence · 2024Article
- Detection of structural variants linked to mutton flavor and odor in two closely related black goat breeds.BMC genomics · 2024Article
- Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity.Scientific reports · 2024Article
- Differential DNA methylation in somatic and sperm cells of hatchery vs wild (natural-origin) steelhead trout populations.Environmental epigenetics · 2021Article
- Comparative analyses of copy number variations between Bos taurus and Bos indicus.BMC genomics · 2020Article
- Identification of Copy Number Variation in Domestic Chicken Using Whole-Genome Sequencing Reveals Evidence of Selection in the Genome.Animals : an open access journal from MDPI · 2019Article
- A Propensity Score-adjusted Analysis of the Effects of Ubiquitin E3 Ligase Copy Number Variation in Peripheral Blood Leukocytes on Colorectal Cancer Risk.Journal of Cancer · 2019Article
- Population Structure, and Selection Signatures Underlying High-Altitude Adaptation Inferred From Genome-Wide Copy Number Variations in Chinese Indigenous Cattle.Frontiers in genetics · 2019Article
- Comparative analyses across cattle genders and breeds reveal the pitfalls caused by false positive and lineage-differential copy number variations.Scientific reports · 2016Article
- Adaptive potential of genomic structural variation in human and mammalian evolution.Briefings in functional genomics · 2015Review
- Epigenetics and the evolution of Darwin's Finches.Genome biology and evolution · 2014Article
- The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.European journal of human genetics : EJHG · 2013Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations. To trace potential evolutionary changes of well-described biological pathways, we jointly queried the genomes and the transcriptomes of a collection of individuals with Caucasian, Asian or Yoruban descent combining high-resolution array and sequencing data.
resultsWe implemented an enrichment analysis of pathways accounting for CNVs and genes sizes and detected significant enrichment not only in signal transduction and extracellular biological processes, but also in metabolism pathways. Upon the estimation of CNV population differentiation (CNVs with different polymorphism frequencies across populations), we evaluated that 22% of the pathways contain at least one gene that is proximal to a CNV (CNV-gene pair) that shows significant population differentiation. The majority of these CNV-gene pairs belong to signal transduction pathways and 6% of the CNV-gene pairs show statistical association between the copy number states and the transcript levels.
conclusionsThe analysis suggested possible examples of positive selection within individual populations including NF-kB, MAPK signaling pathways, and Alu/L1 retrotransposition factors. Altogether, our results suggest that constitutional CNVs may modulate subtle pathway changes through specific pathway enzymes, which may become fixed in some populations.
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