A codon substitution model that incorporates the effect of the GC contents, the gene density and the density of CpG islands of human chromosomes
2011

Model for Codon Substitutions in Human Chromosomes

Sample size: 10372 publication Evidence: high

Author Information

Author(s): Misawa Kazuharu

Primary Institution: Research Program for Computational Science, RIKEN

Hypothesis

This study aimed at understanding the effect of genomic features, namely, GC content, gene density, and frequency of CpG islands, on the rates of codon substitution in human chromosomes.

Conclusion

The substitution rates of codons depend on gene densities of the chromosomes.

Supporting Evidence

  • The study used 10,372 orthologous gene trios from human, chimpanzee, and macaque genomes.
  • Codon substitution rates were classified into four categories: CpG to TpG, TpG to CpG, and non-CpG transitions and transversions.
  • Statistical analyses showed significant correlations between substitution rates and genomic features.

Takeaway

This study looks at how different features of our DNA affect how often certain changes happen in genes. It found that the number of genes in a chromosome can change how often these changes occur.

Methodology

Codon substitution rates were estimated by comparing the coding regions of thousands of human and chimpanzee genes and inferring their ancestral sequences using macaque genes as the outgroup.

Statistical Information

P-Value

<0.001

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1186/1471-2164-12-397

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