About this Research Topic
The topic that we propose concerns the use of genetic studies in model organisms, including yeast, flies, worms and zebrafish, to unravel the molecular mechanisms involved in human diseases including cancer and mendelian diseases.
Despite the fact that the budding yeast and humans are separated by a billion years of evolutionary history, more than 400 essential yeast genes can be replaced with their human orthologs. Given the evolutionarily conservation of many cellular processes, in the last 30 years genetic studies in yeast have been relevant for the understanding of human biology and pathology. In particular, pioneering genetic studies in yeast have contributed to understanding the mechanisms underlying autophagy and vesicle trafficking, two processes involved in several human diseases including cancer and neurodegenerative disorders. More recently, the production of yeast strains expressing human genes (“humanized yeast”) has been very important for the detailed analysis of normal and pathogenic variants.
Because many biological functions are evolutionarily conserved, model organisms have been extremely useful to dissect the molecular pathways required for key physiological processes including neuronal plasticity and muscle activity. Despite many differences with humans, the invertebrate Drosophila melanogaster provides an extremely valid resource to investigate the mechanisms involved in organ formation and in the pathology of human diseases. It has been estimated that nearly 65% of human genes have orthologs in Drosophila melanogaster and that nearly 75% of the genes involved in human disease have functional orthologs in flies. The sophisticated genetic tools offered by Drosophila, allow rapid generation of models for human disease, assaying the functional effects of human variant alleles and testing new therapeutic drugs.
The zebrafish Danio rerio shares vertebrate-conserved characteristics with human, including very similar organs. This organism is emerging as a highly suitable model system for investigating gene functions involved in hematopoiesis and screening for novel potential drugs in cancer therapy.
The scope of this issue will be to illustrate the importance of genetic studies in model organisms in our knowledge of numerous human diseases. We would like to include Original Research and Reviews from research groups that use small model organisms to investigate the mechanisms of action of genes involved in tumorigenesis, rare genetic disorders or neurodegenerative diseases. Overall the scope of this issue will be to highlight the contribution of genetic dissection in model organisms to human disease research.
Keywords: Model organisms, Genetic Disorders
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