受付中Zasshikai seminar 1995th, Dr. Sylvie FRIANT, “Humanization of yeast to study and validate new patient variants in rare genetic diseases”
Jul.8
- 日時
- 2025/7/8 14:30〜
- 会場
- Class room 284, School of Science Bldg. 1 (East)
- 講師
- Dr. Sylvie FRIANT (Laboratoire Génétique Moléculaire, Génomique, Microbiologie (GMGM), University of Strasbourg, France)
- 演目
- “Humanization of yeast to study and validate new patient variants in rare genetic diseases”
- 担当
- Prof. Takeaki Ozawa (ext.24351), Department of Chemistry, Graduate School of Science
Abstract:Some patients with rare genetic diseases (myopathy, neuropathy, ciliopathy, blood diseases) do not have mutations in the known genes and exome or genome sequencing reveals new genetic targets. In our research team, we are using different cell models including yeast Saccharomyces cerevisiaes to validate these new genes and study their variants responsible for rare diseases. The budding yeast Saccharomyces cerevisiae is a unicellular eukaryote with intracellular organization comparable to that of human cells and characterized trafficking and metabolic pathways (Feyder et al, 2015; Kachroo et al, 2015). These mutations often detected in a small number of patients, are the most difficult to validate and an approach starting with the use of the yeast model is not expensive and fast. We are creating humanized yeast cells expressing the human cDNA (tissue-specific isoform) either wild-type or bearing the patient mutation revealed by the sequencing data. Different phenotypes and pathways as membrane trafficking or phosphoinositides lipids levels were analyzed in these humanized yeasts to determine the defects linked to the mutation (Goret et al., 2025; Raess et al., 2017). The yeast model has proven to be very effective so far, as humanization of yeast allowed us to validate new genes in rare diseases and to determine at the cellular level the defects due to the patient mutations.
