Very happy to share *two* new projects from my group now on @biorxivpreprint.bsky.social on mtDNA variation effects on tissue-specific gene expression conducted using RNAseq data in 49 tissues in the GTEx project! 🧵 1/n - ThreadSky

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caina89.bsky.social • 70 days ago

Very happy to share *two* new projects from my group now on @biorxivpreprint.bsky.social on mtDNA variation effects on tissue-specific gene expression conducted using RNAseq data in 49 tissues in the GTEx project! 🧵
1/n

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caina89.bsky.social•70 days ago

1️⃣ @xenophong.bsky.social investigated the effects of homoplasmic mtDNA variant effects on mtDNA and nucDNA gene expression using data in GTEx. He also looked into nucDNA variant effects on mtDNA gene expression, as well as mediation effects between both types of variant effects. 2/n

caina89.bsky.social•70 days ago

This is the most comprehensive tissue-specific investigation into mtDNA’s role in gene expression regulation since prev works including Ali et al eLife 2019 (https://elifesciences.org/articles/41927) and Cai & Gomez-Duran et al Nat Med 2021 (https://www.nature.com/articles/s41591-021-01441-3) @auroradevea.bsky.social
3/n

caina89.bsky.social•70 days ago

Link to preprint: https://www.biorxiv.org/content/10.1101/2024.12.10.627680v1

caina89.bsky.social•70 days ago

2️⃣ @simon-wengert.bsky.social identified and characterized mtDNA heteroplasmy (mtDNA het) and mtRNA modifications (mtRNA mod) from RNAseq data on mtDNA transcripts in all 49 tissues in the GTEx project, and assessed their roles in ageing and gene regulation.
5/n

caina89.bsky.social•70 days ago

This follows recent work by An et al Nat Gen 2024 (https://www.nature.com/articles/s41588-024-01838-z) that characterized mtDNA het using DNAseq – Simon takes it one step further, investigating tissue-specific mtDNA het and mtRNA mod that are *expressed* and therefore more likely functional.
6/n

caina89.bsky.social•70 days ago

Tweetorial by @simon-wengert.bsky.social is online (I haven’t figured out how to link it- check out his bluesky!)
Link to preprint: https://www.biorxiv.org/content/10.1101/2024.12.11.627989v1
7/n

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