ArticleBMC bioinformatics2012
Detection of gene expression changes at chromosomal rearrangement breakpoints in evolution.
Article in BMC bioinformatics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Reconstruction of hundreds of reference ancestral genomes across the eukaryotic kingdom.Nature ecology & evolution · 2023Article
- The slow-evolving Acorus tatarinowii genome sheds light on ancestral monocot evolution.Nature plants · 2022Article
- Impacts of dietary exposure to sodium or potassium salts of nitrate and nitrite on the development ofInterdisciplinary toxicology · 2017Article
- Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.Orphanet journal of rare diseases · 2016Article
- Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.Genome research · 2014Article
- Unraveling the effect of genomic structural changes in the rhesus macaque - implications for the adaptive role of inversions.BMC genomics · 2014Article
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Authors and funding
2 authors.
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Abstract
backgroundWe study the relation between genome rearrangements, breakpoints and gene expression. Genome rearrangement research has been concerned with the creation of breakpoints and their position in the chromosome, but the functional consequences of individual breakpoints remain virtually unknown, and there are no direct genome-wide studies of breakpoints from this point of view. A question arises of what the biological consequences of breakpoint creation are, rather than just their structural aspects. The question is whether proximity to the site of a breakpoint event changes the activity of a gene.
resultsWe investigate this by comparing the distribution of distances to the nearest breakpoint of genes that are differentially expressed with the distribution of the same distances for the entire gene complement. We study this in data on whole blood tissue in human versus macaque, and in cerebral cortex tissue in human versus chimpanzee. We find in both data sets that the distribution of distances to the nearest breakpoint of "changed expression genes" differs little from this distance calculated for the rest of the gene complement. In focusing on the changed expression genes closest to the breakpoints, however, we discover that several of these have previously been implicated in the literature as being connected to the evolutionary divergence of humans from other primates.
conclusionsWe conjecture that chromosomal rearrangements occasionally interrupt the regulatory configurations of genes close to the breakpoint, leading to changes in expression.
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