Molecular evolution and network analyses to understand the genotype-phenotype relationship of human diseases
  • Sanguk Kim Ph.D
  • SLS Colloquia / Oct 11th 04:00 pm / BLDG 110 ROOM N104

Dr. Kim’s research group ( is focusing on network biology and developing molecular evolutionary approaches to understand how genotypes and phenotypes are related. In the colloquium, he will deliver recent research progress about network evolutionary mechanisms contributed to the changes of phenotypes across species. Model organisms were frequently used to investigate human gene-phenotype relationships based on a conjecture that orthologous genes generally perform similar functions and are associated with similar phenotypes. However, phenotypes associated with orthologous genes often turn out to be quite different between human and mouse. We recently devised a method to quantitatively compare phenotypes annotations associated with mouse models and human. Using semantic similarity comparisons, we identified orthologous genes with different phenotype annotations, of which the similarity score is on a par with that of random gene pairs. Analysis of sequence evolution and transcriptomic changes revealed that orthologous genes with phenotypic differences are correlated with changes in noncoding regulatory elements and tissue-specific expression profiles rather than changes in protein-coding sequences. Our results support that careful consideration of the evolutionary history of biological network would facilitate the understanding human genotype-phenotype relationship.