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Fig. 1. Number of unique gene-phenotype associations, identification of phenologs, and the example of a worm model of breast cancer. (A) The rate of associating genes to organism-level phenotypes in model organisms greatly exceeds that in humans (data from refs. 8–11, 14). Thus, appropriate mapping of model organism phenotypes to human diseases could significantly accelerate discovery of human disease gene associations. Orthologous phenotypes (phenologs) offer one such approach. (B) Phenologs can be identified based on significantly overlapping sets of orthologous genes (gene A is orthologous to A', B to B', etc.), such that each gene in a given set (green box or cyan box) gives rise to the same phenotype in that organism. The phenotypes may differ in appearance between organisms because of differing organismal contexts. As gene-phenotype associations are often incompletely mapped, genes currently linked to only one of the orthologous phenotypes become candidate genes for the other phenotype; that is, the gene A' is a new candidate for phenotype 2. (C) An example of a phenolog mapping high incidence of male C. elegans progeny to human breast/ovarian cancers (details in text).

Image published in: McGary KL et al. (2010)

Copyright © 2010. Image reproduced with permission of the publisher and the copyright holder. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.

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