Postdoc in theoretical biology @kokkonutter @uni_mainz. Evolution & development, gene regulation, symbiosis, health & disease. And a fondness for the humanities
Mainz/Frankfurt, Germany
Joined August 2019
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Importantly, it is IRF6's own enhancer that gets disrupted, thereby perturbing the positive feedback loop needed for proper IRF6 expression levels.
This is further evidence showing that disrupted positive feedback can lead to developmental disorders: bit.ly/48ILWTz
GWAS of non-syndromic cleft palate in 228 cases and 300k controls from Finland. The striking signal in chromosome 1 is driven by a noncoding variant near a transcription factor IRF6 disrupting an enhancer. The variant is 19 times more frequent in Finns than other Europeans.
Rahimov et al. Nat Comm
nature.com/articles/s41467-0…
Strong evidence of reduced NPAS3 expression in modern humans due to loss of enhancer function!
Further support for the hypothesis that loss-of-function of genes involved in brain development was important for human evolution:
tinyurl.com/2p6aarkc
academic.oup.com/mbe/article…
In fact, I discussed many of the "unsuspected links" between phase separation and transcription factor haploinsufficiency in my 2022 review...
journals.biologists.com/bio/…
Fantastic work allowing the fine-tuning of transgene expression, offering great potential for the therapy of haploinsufficiency disorders!
Loss of gene expression can compromise cellular fitness. In the case of such haploinsufficiency, replacement of the gene supplementation could rescue cell health. But what if you need a very precise dosage? Try ComMAND! 🧵 (1/n)
Link: doi.org/10.1101/2024.06.25.6…
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Great paper by @AlexSta11174709 @FraserLab showing large-scale downregulation of ASD-associated genes during human evolution, likely driven by positive selection for lower expression of these genes.
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biorxiv.org/content/10.1101/…
Strong evidence for the hypothesis that selection for reduced expression of haploinsufficient transcriptional regulator genes (many of which are ASD-associated) was a major driver of the evolution of human brain-related traits:
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cambridge.org/core/journals/…
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Look at this great thread of scikus by @nashintasapaino, summarizing talks and posters at #evol2024!
Really impressive work!! 👏
biorxiv.org/content/10.1101/…
Excited to share the first 2/3 or so of my MS thesis with @vishuguttal (in @CES_IISc & @IISERPune) with y'all. We generalize some standard equations of #evolution to finite pops of variable size and study the effects of "noise-induced selection". A long🧵
Evolution of a new cell type! 🔥🔥
Fantastic work suggesting that cell type identity is specified by upregulation of several transcription factors, thus supporting pioneering work by Günter Wagner, @DevoEvoMed, Oliver Hobert and others.
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Indeed a great talk by @ProencaAudrey!
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Neuestes Video des Grauens
Ich habe mit @ProfRieck auf seinem coolen und lehrreichen Kanal über die woke Weltanschauung und Bewegung gesprochen. Er war zum Teil entsetzt. 😉
youtube.com/watch?v=bj5rRTK6…
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Come join us in Mainz for a brand new Master program in #EvolutionaryBiology!
New international, English-language Master's degree program in #EvolutionaryBiology links theoretical exploration and practical laboratory work / Application period: April 2nd to May 15th, 2024 press.uni-mainz.de/new-inter… / #Biology #MolecularBiology #StudyInGermany
Evolution of ageing, life history theory, sex determination and sexual conflict, host-symbiont interactions - so many exciting topics within theoretical evolutionary biology that we @kokkonutter|s work on! Reach out if you're interested 😎
Humboldt Professor Hanna Kokko, leading specialist in theoretical #EvolutionaryBiology, and her team at #UniMainz focus on the theoretical /empirical interface in #biology, #bioinformatics & #medicine. 👇
Learn more at 👉 universitaet.uni-mainz.de/en…
#AvHProfessor @AvHStiftung
Fantastic work spearheaded by @peihengg_heart (@Transactivator lab) and @mikayla_eppert (@bsabari lab) showing that the transcriptional coactivator MYOCD forms condensates to activate cell identity genes in a switch-like and dosage-dependent manner.
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science.org/doi/10.1126/scia…
Why AGI is not around the corner:
Great thread on the fundamental differences between AGI and its biological counterpart
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This fantastic single-cell brain organoid paper lends strong support to the hypothesis that (neuro)developmental disorders caused by heterozygous loss-of-function of transcriptional regulators (e.g. autism) result from defects in cell fate determination (journals.biologists.com/bio/…):
We are thrilled to share our latest work, a collaborative effort with @TreutleinLab, in Nature (nature.com/articles/s41586-0…). We introduce CHOOSE, a powerful screening system within cerebral organoids, through which we identified developmental defects associated with autism.
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Great work from the @ArboledaVal, @LTULab, and @mikejg84 labs showing that haploinsufficiency of the transcriptional regulator KAT6A leads to impaired cell fate determination during neurodevelopment in a brain organoid model of Arboleda-Tham syndrome
biorxiv.org/content/10.1101/…
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This work nicely lends further support to the hypothesis that developmental disorders caused by haploinsufficiency of transcriptional regulators result from defects in cell fate determination
journals.biologists.com/bio/…
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