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- W4205124878 abstract "Instructions written into the genetic code can be abridged or elongated to meet the requirements of individual cells. In humans, this “gene splicing” process is tremendously complex and utilizes over 200 individual proteins and 5 small nuclear RNAs. The protein and RNA molecules that constitute the biological machinery orchestrating the splicing reaction, the spliceosome, act with precise coordination to select and orient segments of genetic code, in the form of pre-messenger RNAs, to exact positions in order to excise regions (introns) and fuse the remaining regions (exons) together to create functional messenger RNAs. Deciding which specific genetic elements to retain and utilize is called alternative splicing. Deviations in alternative splicing can have dramatic negative effects on individual cells as well as the tissue and organism they comprise. The first step to intelligently targeting alternative splicing for the purposes of personalized medicine and genetic diagnostics is to elucidate the rules that govern splicing encoded into the genetic sequence itself. Recently, there have been great strides in computational prediction of splicing sites, however, these advances are based on top-down observational data connecting genetic sequence and splicing patterns. My current work approaches the problem in a bottom-up fashion, by taking sequences that have been experimentally verified to lead to disease based on alternative splicing and interrogating how they differ from the healthy versions of the same sequence. This work employs single molecule fluorescence microscopy, along with classic biochemical methods, to examine differences in three sequences that, due to single point mutations, exhibit changes in alternative splicing that result in disease. Our data show that these mutations change the conformational ensembles of the pre-mRNA, either through formation of different secondary structures or changes in RNA dynamics." @default.
- W4205124878 created "2022-01-25" @default.
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- W4205124878 date "2020-02-01" @default.
- W4205124878 modified "2023-09-27" @default.
- W4205124878 title "RNA Structural Ensembles Act as a Gate Keeper of 3′ Alternative Splicing" @default.
- W4205124878 doi "https://doi.org/10.1016/j.bpj.2019.11.541" @default.
- W4205124878 hasPublicationYear "2020" @default.
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