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| Item Type: | Preprint |
|---|---|
| Title: | Tissue-specific apparent mtDNA heteroplasmy and its relationship with ageing and mtDNA gene expression |
| Creators: |
Wengert, S., Giannoulis, X., Kreitmaier, P., Kautz, P.  ORCID: https://orcid.org/0000-0002-9658-1676, Ludwig, L.S. ORCID: https://orcid.org/0000-0002-2916-2164, Prokisch, H. ORCID: https://orcid.org/0000-0003-2379-6286, Casale, F.P. ORCID: https://orcid.org/0000-0002-5450-1981, Heinig, M. ORCID: https://orcid.org/0000-0002-5612-1720 and Cai, N. ORCID: https://orcid.org/0000-0001-7496-2075
|
| Abstract: | Heteroplasmy in the mitochondrial DNA (mtDNA) accumulates with age, but how much it occurs in tissues and how it affects function and physiology is not well-studied. Here we present a comprehensive tissue-specific map of mtDNA heteroplasmy and mtRNA modifications, and their relationships with age and mitochondrial gene expression. We propose a robust variant calling pipeline for mtDNA heteroplasmy and mtRNA modifications using bulk RNAseq data from 49 tissues in GTEx, and a calibrated phenotype association framework for both types of variants. We identify 109 associations between them and donor age, and 784 associations with tissue-specific mtDNA gene expression. Of these, 7 and 18 show cell-type specificity within tissue. In addition, we find 9 instances where these variations mediate donor age effects on mtDNA gene expression. Finally, we confirm previously identified relationships between mt-tRNA modifications and gene expression on their 5’, but read- and gene-level investigations reveal previously unmodeled complexities. |
| Source: | bioRxiv |
| Publisher: | Cold Spring Harbor Laboratory Press |
| Article Number: | 2024.12.11.627989 |
| Date: | 16 December 2024 |
| Official Publication: | https://doi.org/10.1101/2024.12.11.627989 |
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