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RNA modifications in human diseases: what, when and how?
Published on June 29, 2021 33 min
A selection of talks on Genetics & Epigenetics
Genetic counseling: preconception, prenatal, perinatal
- Prof. Aubrey Milunsky
- Tufts University School of Medicine, USA
Recent advances in the development of gene delivery technologies
- Dr. Takis Athanasopoulos
- GSK, UK
Hello everyone, I would like to thank Henry Stewart Talks for inviting me to give this webinar. My name is Chengqi Yi from Peking University, China. I will talk about RNA modifications in biology and human diseases, and share with you some of our recent work in the field of epitranscriptomics.
According to the central dogma, RNA is not only the carrier of genetic code, but also controls the flow of genetic information. To function properly RNA has to be chemically modified. In fact, over 160 different types of RNA modifications have been identified so far. Growing evidence has demonstrated that RNA modifications, and the enzymes catalyzing such modifications, play important roles in various human diseases, including (but not limited to) cancer, neurological disorders, immune diseases, and mitochondrial-linked disorders. Take m^6A for instance, it is the most abundant internal mRNA modification in higher eukaryotes, and mutation or dysregulation of m^6A writers, erasers, and readers, have been shown to be the direct cause of multiple diseases. However, for the most part of RNA modifications, the molecular mechanisms behind these connections remain unclear.
My research focuses on RNA modification mediating gene expression regulation. We ask: what modifications are biologically important and disease-relevant? In addition to the well-known m^6A, there are about a dozen mRNA modifications in human cells, including m^6Am, pseudouridine, m^1A etc. To understand their biology, we first want to know where these modifications are in the transcriptome. Utilizing our expertise in chemical biology, we have developed several technologies to review the landscape of these RNA modifications. Such enabling technologies have, in turn, facilitated functional and mechanistic study to understand how these modifications can impact gene expression. Today, I will share with you our findings on pseudouridine and m^6Am.