tailieunhanh - Báo cáo y học: "Using protein complexes to predict phenotypic effects of gene mutatio"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Using protein complexes to predict phenotypic effects of gene mutation. | Open Access Research Using protein complexes to predict phenotypic effects of gene mutation Hunter B Fraser and Joshua B Plotkin Addresses Broad Institute of Harvard and MIT 320 Charles St Cambridge Massachhusetts 02142 USA. Department of Biology University of Pennsylvania 433 S. University Ave Philadelphia Pennsylvania 19104 USA. Correspondence Hunter B Fraser. Email hunter@ Published 27 November 2007 Genome Biology 2007 8 R252 doi gb-2007-8- 11-r252 The electronic version of this article is the complete one and can be found online at http 2007 8 ll R252 Received 13 June 2007 Revised 25 September 2007 Accepted 27 November 2007 2007 Fraser and Plotkin licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Predicting the phenotypic effects of mutations is a central goal of genetics research it has important applications in elucidating how genotype determines phenotype and in identifying human disease genes. Results Using a wide range of functional genomic data from the yeast Saccharomyces cerevisiae we show that the best predictor of a protein s knockout phenotype is the knockout phenotype of other proteins that are present in a protein complex with it. Even the addition of multiple datasets does not improve upon the predictions made from protein complex membership. Similarly we find that a proxy for protein complexes is a powerful predictor of disease phenotypes in humans. Conclusion We propose that identifying human protein complexes containing known disease genes will be an efficient method for large-scale disease gene discovery and that yeast may prove to be an informative model system for investigating and even predicting the genetic basis of both Mendelian and complex