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| Status |
Public on Apr 27, 2022 |
| Title |
Phenotype of Mrps5-associated polymorphisms is intimately linked to mitoribosomal misreading |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Recently, we have identified a point mutation V338Y in mammalian nuclear-encoded mitochondrial protein MrpS5 that confers error-prone mitochondrial protein synthesis. In-vivo, mutation V338Y was associated with a distinct phenotype including impaired mitochondrial function, enhanced susceptibility to noise-induced hearing damage, anxiety-related behavioral alterations, and age-associated metabolic changes in muscle. To challenge the link between V338Y-mediated misreading and in-vivo phenotype, we introduced mutation G315R into the MRPS5 gene; MRPS5 G315R is homologous to the established bacterial ram mutation uS5 G104R. In contrast to the phylogenetically closely related bacterial translation, the corresponding MRPS5 G315R mutation did not affect the accuracy of mitochondrial protein synthesis. In addition, in the absence of mitochondrial misreading, homozygous mutant MRPS5G315R/G315R mice did not show phenotype distinct from wild-type animals.
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| Overall design |
Transcriptomic profile of total RNA extracted from HEK cells stably transfected with MRPS5 WT or mutant
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| |
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| Contributor(s) |
Böttger EC, Shcherbakov D, Akbergenov R |
| Citation(s) |
35457201 |
| |
| Submission date |
Jan 31, 2022 |
| Last update date |
Apr 29, 2022 |
| Contact name |
Genome Informatics |
| E-mail(s) |
fgcz.gi@gmail.com
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| Organization name |
ETH ZURICH / University of Zurich
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| Department |
Functional Genomics Center Zurich (FGCZ)
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| Street address |
Winterthurerstrasse 190
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| City |
Zurich |
| ZIP/Postal code |
8057 |
| Country |
Switzerland |
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| Platforms (1) |
| GPL20301 |
Illumina HiSeq 4000 (Homo sapiens) |
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| Samples (22)
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| Relations |
| BioProject |
PRJNA802128 |
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