ArticleBMC evolutionary biology2011
The tendency to recreate ancestral CG dinucleotides in the human genome.
Article in BMC evolutionary biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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Who cites it
5 citing papers in PubMed, 18 citations in OpenAlex.
- Functional annotation of de novo variants from healthy individuals.Genomics & informatics · 2019Article
- Dinucleotide Composition in Animal RNA Viruses Is Shaped More by Virus Family than by Host Species.Journal of virology · 2017Article
- Flow-Dependent Epigenetic DNA Methylation in Endothelial Gene Expression and Atherosclerosis.Arteriosclerosis, thrombosis, and vascular biology · 2015Review
- Factors to preserve CpG-rich sequences in methylated CpG islands.BMC genomics · 2015Article
- High Levels of Sequence Diversity in the 5' UTRs of Human-Specific L1 Elements.Comparative and functional genomics · 2012Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe CG dinucleotides are known to be deficient in the human genome, due to a high mutation rate from 5-methylated CG to TG and its complementary pair CA. Meanwhile, many cellular functions rely on these CG dinucleotides, such as gene expression controlled by cytosine methylation status. Thus, CG dinucleotides that provide essential functional substrates should be retained in genomes. How these two conflicting processes regarding the fate of CG dinucleotides - i.e., high mutation rate destroying CG dinucleotides, vs. functional processes that require their preservation remains an unsolved question.
resultsBy analyzing the mutation and frequency spectrum of newly derived alleles in the human genome, a tendency towards generating more CGs was observed, which was mainly contributed by an excess number of mutations from CA/TG to CG. Simultaneously, we found a fixation preference for CGs derived from TG/CA rather than CGs generated by other dinucleotides. These tendencies were observed both in intergenic and genic regions. An analysis of Integrated Extended Haplotype Homozygosity provided no evidence of selection for newly derived CGs.
conclusionsAncestral CG dinucleotides that were subsequently lost by mutation tend to be recreated in the human genome, as indicated by a biased mutation and fixation pattern favoring new CGs that derived from TG/CA.
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Registered trials
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