Stefan Mundlos

@stemundi.bsky.social

So happy to see the illustration of our work featured on the cover of @natgenet.nature.com 😍 It represents digits desintegrating into viral like particles. Thank you so much @annaamonaco.bsky.social for making this design!

Nature Genetics@natgenet.nature.com · last yr.

💫The July issue of @natgenet.nature.com is out! Featuring: ✅retrotransposons in limb malformation and cancer ✅single-cell Micro-C ✅long-term effects of chemotherapy on normal blood cells ✅blood regulatory variation map in South Africans And more! ⬇️ www.nature.com/ng/volumes/5...

Our first bat story is out! What turns a limb into a wing? Evolution's most impressive adaptation. The massive difference is achieved by small changes and the re-purposing of existing pathways - the principle of parsimony! Meis2 gene, normally expressed in proximal limb gets expressed distally.

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50-70% of cases for WGS remain undiagnosed. Searching for an explanation? Read this article by Glaser et al. Activation of endogenous retroviruses can induce cell death in the embry. You can detect virus-like particles in these cell in EM! www.nature.com/ng/volumes/5...

Nature Genetics - An endogenous retrovirus causes limb malformation

Activation of a long terminal repeat retrotransposon inserted upstream of the Fgf8 gene produces viral-like particles that cause limb malformation in...

nature.com

Genome comparisons identify gene flow events between three species of right whales and the bowhead whale. Evidence of historical trans-equatorial migration during ancient glacial cycles. Beautiful work by BaiWei Lo in the lab together with Paolo Franchini: Genome Biology and Evolution, in press.

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A genetic study on Korean divers renowned for their remarkable diving abilities. They identified SNPs, one associated significantly with RBC count. Hematological variation is believed to provide additional oxygen capacity during diving. COOL! www.cell.com/cell-reports...

Genetic and training adaptations in the Haenyeo divers of Jeju, Korea

Aguilar-Gómez et al. find evidence of evolutionary adaptation with potential relevance to breath-hold diving in the Haenyeo divers of Korea. Genetic variants under selection in this population may hel...

cell.com

This is an important paper: genome-lamina interactions are selectively released in early multipotent progenitors preceding gene expression, suggesting it primes regulatory domains for future potential activation. Fantastic collboration of Robson/Kind/Mundlos labs.

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Our new study on whale genomics by BaiWei Lo together with Paolo Franchini. Evidence of historical trans-equatorial migration impacted by glacial cycles and connectivity of bowhead whale populations between the North Pacific right whale, the Southern right whale and the North Atlantic right whale.

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Really proud of Michaela Bartusel, who initiated this work while being a PhD in our lab. Michaela never gave up and, together with the great guidance of my friend and former colleague Eliezer Calo, made some very interesting findings regarding the genetic basis of orofacial clefting.

American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · last yr.

Non-syndromic orofacial clefts (OFCs) are common birth defects with unclear molecular causes. @ajhgnews.bsky.social latest article studies an OFC-associated risk locus & implicates tRNA splicing defects that cause ribosome stalling & neural crest cell dysfunction: www.cell.com/ajhg/abstrac... #ASHG