The role of positive selection in determining the molecular cause of species differences in disease
2008

Positive Selection and Disease Differences in Species

Sample size: 3079 publication 10 minutes Evidence: high

Author Information

Author(s): Vamathevan Jessica J, Hasan Samiul, Emes Richard D, Amrine-Madsen Heather, Rajagopalan Dilip, Topp Simon D, Kumar Vinod, Word Michael, Simmons Mark D, Foord Steven M, Sanseau Philippe, Yang Ziheng, Holbrook Joanna D

Primary Institution: University College London

Hypothesis

Can biomedical disease differences between species be attributed to positively selected genes?

Conclusion

The study identifies genes under positive selection that are implicated in diseases differing in prevalence and symptomatology between humans and other mammals.

Supporting Evidence

  • 511 positively selected genes were detected across all lineages.
  • 162 genes under positive selection were found in the chimpanzee lineage, three times more than in humans.
  • Positive selection analyses revealed significant links between PSGs and disease genes in the OMIM database.

Takeaway

Scientists looked at genes that changed over time in different animals to understand why some diseases affect humans more than other species.

Methodology

The study analyzed alignments of 3079 orthologous genes from humans, chimpanzees, mice, rats, and dogs to detect signals of positive selection.

Potential Biases

The analysis may be affected by sequence errors and the quality of genomic data.

Limitations

The dataset may contain a bias towards orthologues of high levels of conservation, potentially underestimating the number of positively selected genes.

Participant Demographics

The study focused on genes from humans and four mammalian species (chimpanzees, mice, rats, and dogs).

Statistical Information

P-Value

0.0067

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2148-8-273

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