IMPC: The role of SARNP in hearing loss

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DNA resides within the nucleus in human cells and encodes the information to make proteins. Messenger RNA (mRNA) is copied from DNA and is then transported to the cytoplasm where it is translated to make proteins. A key protein complex involved in the transport of mRNA from the nucleus to the cytoplasm is TREX. We previously identified SARNP protein as a subunit of the TREX mRNA export complex which forms an ATP dependent trimer with two other subunits, ALYREF and UAP56 and plays a role in mRNA export. Mutations in TREX subunits are associated with a number of human conditions including X-linked intellectual disability (THOC2) and Beaulieu-Boycott-Innes syndrome (THOC6). Although the preliminary phenotypic screening of a SARNP knockout heterozygote has identified a hearing defect, the molecular and functional mechanisms controlled by this protein in the auditory system are completely unknown. In this project we will combine our expertise in mRNA export mechanisms with that in hearing research to identify the cellular defects leading to hearing loss in these mice.