After an immensely enriching and rewarding PhD in @caina89.bsky.social lab at @pioneercampus.bsky.social, I am excited to announce that I moved to beautiful Copenhagen for my postdoc in Simon Rasmussen's group @cbmr.science!

6/7 Finally, we zoom in on p9 mt-tRNA mod levels to test their impact on mitochondrial transcript processing. We replicate prev assocs between them in blood, test this in all 48 tissues, and further test whether cuts on the 5’ of p9 mods mediate this effect using read-level data.

5/7 There are 10 sites (9 mtDNA het, 1 mtRNA mod) linked to both donor age and mtDNA gene exp. To learn how age, gene exp and het/mod are related, we perform a mediation analysis using partial corr, and find the variations are consistently mediating the effect of age on gene exp.

4/7 Next, we apply the framework to test for relationships with mtDNA encoded poly-A transcript levels, and find 784 effects across tissues (# 576 mtDNA hets; # 208 mtRNA mods). We find that 18 of these are cell type specific, suggesting potentially common effects across cells.

3/7 Since the detection of both variations are affected by RNAseq coverage, we develop a calibrated association testing framework that accounts for coverage effects. Using it, we identify 109 assocs of mtDNA hets and mtRNA mods with donor age, 7 of which are cell type specific.

2/7 We first assess the landscape of both types of variations across tissues: for mtDNA heteroplasmy, we identify those with putatively somatic and inherited origins, and for mtRNA modifications, we find significant enrichments in CNS as compared to other tissues.

After 4 fantastic years of research, together with @caina89.bsky.social & Matthias Heinig, I’m thrilled to share the first tissue specific map of apparent mtDNA heteroplasmy in humans and their relationships with donor age and mtDNA gene expr across 49 tissues!

www.biorxiv.org/content/10.1...