Concordance of gene expression in human protein complexes reveals tissue specificity and pathology

Nucleic Acids Res. 2013 Oct;41(18):e171. doi: 10.1093/nar/gkt661. Epub 2013 Aug 5.

Abstract

Disease-causing variants in human genes usually lead to phenotypes specific to only a few tissues. Here, we present a method for predicting tissue specificity based on quantitative deregulation of protein complexes. The underlying assumption is that the degree of coordinated expression among proteins in a complex within a given tissue may pinpoint tissues that will be affected by a mutation in the complex and coordinated expression may reveal the complex to be active in the tissue. We identified known disease genes and their protein complex partners in a high-quality human interactome. Each susceptibility gene's tissue involvement was ranked based on coordinated expression with its interaction partners in a non-disease global map of human tissue-specific expression. The approach demonstrated high overall area under the curve (0.78) and was very successfully benchmarked against a random model and an approach not using protein complexes. This was illustrated by correct tissue predictions for three case studies on leptin, insulin-like-growth-factor 2 and the inhibitor of NF-κB kinase subunit gamma that show high concordant expression in biologically relevant tissues. Our method identifies novel gene-phenotype associations in human diseases and predicts the tissues where associated phenotypic effects may arise.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Disease / genetics*
  • Gene Expression
  • Humans
  • Lamin Type A / genetics
  • Lamin Type A / metabolism
  • Multiprotein Complexes / genetics*
  • Multiprotein Complexes / metabolism
  • Organ Specificity
  • Phenotype
  • Protein Interaction Mapping

Substances

  • LMNA protein, human
  • Lamin Type A
  • Multiprotein Complexes