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Systematic discovery of nonobvious human disease models through orthologous phenotypes.

Biologists have long used model organisms to study human diseases, particularly when the model bears a close resemblance to the disease. We present a method that quantitatively and systematically identifies nonobvious equivalences between mutant phenotypes in different species, based on overlapping sets of orthologous genes from human, mouse, yeast, worm, and plant (212,542 gene-phenotype associations). These orthologous phenotypes, or phenologs, predict unique genes associated with diseases. Our method suggests a yeast model for angiogenesis defects, a worm model for breast cancer, mouse models of autism, and a plant model for the neural crest defects associated with Waardenburg syndrome, among others. Using these models, we show that SOX13 regulates angiogenesis, and that SEC23IP is a likely Waardenburg gene. Phenologs reveal functionally coherent, evolutionarily conserved gene networks-many predating the plant-animal divergence-capable of identifying candidate disease genes.

Pubmed ID: 20308572


  • McGary KL
  • Park TJ
  • Woods JO
  • Cha HJ
  • Wallingford JB
  • Marcotte EM


Proceedings of the National Academy of Sciences of the United States of America

Publication Data

April 6, 2010

Associated Grants

  • Agency: NIGMS NIH HHS, Id: R01 GM067779
  • Agency: NIGMS NIH HHS, Id: R01 GM074104
  • Agency: NIGMS NIH HHS, Id: R01 GM088624
  • Agency: Howard Hughes Medical Institute, Id:

Mesh Terms

  • Animals
  • Computational Biology
  • Gene Expression Regulation
  • Humans
  • Neovascularization, Pathologic
  • Phenotype