Systematic screens for human disease genes, from yeast to human and back.
Systematic screens for human disease genes have emerged in recent years, due to the wealth of information provided by genome sequences and large scale datasets. Here we review how integration of genomic data in yeast and human is helping to elucidate the genetic basis of mitochondrial diseases. The identification of nearly all yeast mitochondrial proteins and many of their functional interactions provides insight into the role of mitochondria in cellular processes. This information enables prioritization of the candidate genes underlying mitochondrial disorders. In an iterative fashion, the link between predicted human candidate genes and their disease phenotypes can be experimentally tested back in yeast.
Perocchi
Fabiana
F
European Molecular Biology Laboratory, Meyerhofstrasse 1, Heidelberg, Germany.
Mancera
Eugenio
E
Steinmetz
Lars M
LM
D050259:Genes, Mitochondrial / Q000502:physiology; D005820:Genetic Testing; D023281:Genomics; D006801:Humans; D008928:Mitochondria / Q000502:physiology; D028361:Mitochondrial Diseases / Q000235:genetics*; D008954:Models, Biological; D012441:Saccharomyces cerevisiae / Q000235:genetics; D015003:Yeasts / Q000235:genetics*