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Noa Ottilie Borst

@ottilie.bsky.social
155 followers 162 following 22 posts

PhD w/ Justin Crocker at EMBL 👩‍🔬 | developmental genetics & regulatory evolution 🪰🧬

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Reposted by Noa Ottilie Borst
Paco Majic @hhydrochaerus.bsky.social · 09/07/2026
What drives the variation in mutation rates between seals and walruses, gulls and pelicans? Maybe selection counteracting the burden of deleterious mutations- or maybe it is a spandrel, a neutral byproduct of the diversification of development and life-history academic.oup.com/evolut/advan...
academic.oup.com
Mutation rate variation as the neutral byproduct of developmental and life history diversification
Abstract. Understanding why species differ in their rates of mutation is central to explaining patterns of molecular and phenotypic evolution. Mutation rat
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Noa Ottilie Borst @ottilie.bsky.social · 19/06/2026
Such an incredible couple of days! I'll be thinking about the ideas and discussions for a long time to come. Many thanks to the organisers and @biologists.bsky.social for putting together such a fantastic workshop 🌟
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Reposted by Noa Ottilie Borst
Rodrigo Senovilla-Ganzo @rodrisenovilla.bsky.social · 18/06/2026
The GRN future shines bright in the evo-devo landscape! ☀️Being surrounded of these amazing scientists for a week has been a total pleasure, I will need a whole summer to process all the results, discussions and advice. Profoundly grateful to @biologists.bsky.social and organizers James and Antonia
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Nature Reviews Genetics @natrevgenet.nature.com · 04/06/2026
ICYMI: New online! Pleiotropic effects of cis-regulatory mutations
dlvr.it
Pleiotropic effects of cis-regulatory mutations
Nature Reviews Genetics, Published online: 28 May 2026; doi:10.1038/s41576-026-00981-zIn this Comment, Patricia Wittkopp revisits assumptions that cis-regulatory mutations are weakly pleiotropic, ultimately calling for more data to assess the extent to which they are less pleiotropic and deleterious than trans-regulatory mutations.
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Noa Ottilie Borst @ottilie.bsky.social · 13/05/2026
Now published in Current Opinion in Genetics & Development as part of the special issue on Genome Architecture and Expression. 🧬 Part 1: doi.org/10.1016/j.gd... Part 2: doi.org/10.1016/j.gd...
doi.org
Redirecting
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EMBL DB unit @embldbunit.bsky.social · 20/04/2026
🔥New work from the Crocker group @justinmcrocker.bsky.social @embl.org on the mechanistic and evolutionary basis of dominance from cis-regulatory variation in Drosophila Congratulations to Noa @ottilie.bsky.social and all the authors 🥳
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Timothy Fuqua 🏳️‍🌈 @timothyfuqua.bsky.social · 08/04/2026
Come listen to my talk about how enhancers evolve and how promoters emerge from randomly synthesized DNA sequences!
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Justin Crocker @justinmcrocker.bsky.social · 19/03/2026
New Preprint! When one enhancer allele changes another's regulatory output, is that bad? We found it could be a feature — interallelic cis-regulatory dominance buffers outputs AND enables evolutionary innovation. Two for one! Led by @ottilie.bsky.social from @embl.org doi: doi.org/10.64898/202...
doi.org
Interallelic cis-regulatory dominance promotes robustness and evolutionary innovation
Dominance is a central principle of genetics, yet the mechanistic basis and the evolutionary consequences of dominance arising from cis-regulatory variation remain poorly understood. We examined the evolutionary trajectories of a pleiotropic developmental enhancer in Drosophila . A genotype–phenotype map between D. melanogaster and D. simulans enhancer sequences reveals extensive epistasis, and many homozygous evolutionary paths reduce transcriptional output. In heterozygotes, however, regulatory dominance masks variants that reduce gene expression, potentially relaxing evolutionary constraints. Using allele-specific reporters and imaging, we show that this dominance arises from interallelic interactions (also known as transvection) reinforced by transcriptional hubs. Importantly, this enhancer dominance is cell-type specific, raising the possibility that it conceals deleterious effects in essential tissues while revealing novel, ectopic activity in others. Interallelic regulatory hubs may therefore expand the range of mutational paths available to diploid genomes while preserving essential transcriptional output. ### Competing Interest Statement The authors have declared no competing interest.
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Noa Ottilie Borst @ottilie.bsky.social · 19/03/2026
Thanks so much Luisa! ☀️
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Thanks so much Tim! 💙
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Many thanks to my co-authors @timothyfuqua.bsky.social, @fabianruperti.bsky.social and @justinmcrocker.bsky.social. Please let me know if you have feedback, or want to chat more about this work! (18/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
These results may explain how seemingly fragile cis-regulatory elements preserve their function yet remain evolutionary flexible. (17/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
In this way, gene expression is maintained in the face of potentially disruptive mutations (robustness), while concurrently allowing the exploration of new phenotypic effects in a cryptic or compartmentalized way (innovation). (16/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
We believe these interallelic hubs can act as evolutionary stepping stones: rather than having a single, uniform phenotypic effect, each enhancer allele can experience a distinct dominance relationship depending on cellular environment and developmental stage. (15/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Multiple factors may underly the cell type-specificity in dominance strength, such as interallelic pairing strengths, chromatin accessibility, post-transcriptional regulation, competition for TFs, and the chemical properties of the TFs in an interallelic hub. (14/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Although transvection is dependent on somatic homolog pairing, which has predominantly been characterised in Diptera and budding yeast, interallelic and interchromosomal transcriptional hubs are increasingly recognized across metazoans. (13/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Using a two-color reporter assay we then showed colocalization of the two transcription sites in a "dominant" cell type, which was accompanied by a higher concentration of the activator Ubx. This suggests that interallelic transcription hubs underlie the interactions between the alleles. (12/18)
On the top left, a stage 15 embryo resulting from a cross of the wildtype E3N-lacZ line, integrated at attP2 (chr.3L) with ectopic E3N mutant 145-2 driving lacZ, integrated at attP2 (chr.3L). RNA of both the lacZ and dsRed reporter genes are labeled by HCR RNA-FISH. On the right to it, a violin plot showing the difference in Ubx concentration between colocalized (green) and non-colocalized (purple) transcription sites of lacZ and dsRed. Colocalized sites exhibit significantly higher Ubx intensity compared to non-colocalized loci. A pie chart summarizes the proportion of observations in each category. On the left bottom, a close-up of a nucleus (in blue, DAPI) in the ventral zone, highlighted by a dotted-striped rectangle in the image above it. Separation of the different channels reveals colocalization of lacZ and dsRed nascent RNA at a shared transcription site, accompanied by a local enrichment of Ubx protein. On the right to this, a 3D surface plot of Ubx protein levels from antibody staining of the nucleus mentioned before. Ubx signal is shown in arbitrary units (AU) on a 0-255 scale, and presence of lacZ and dsRed signal is depicted in magenta and green, respectively. On the right to that, a schematic of the interallelic transcriptional hub for the genotype described before.
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
So what is the mechanism underlying this regulatory dominance? By removing, replacing and transporting different cis-regulatory elements we showed proximity-dependent, transvection-like interactions between the enhancers alleles. (11/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Overall, we see cell type-specific differences in the degrees of dominance within an embryo, where in some cell types mutant activity is observed, and in others it is fully repressed. This type of dominance allows for a mosaic regulatory outcome that promotes robustness and innovation. (10/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
In one homozygous variant, the embryo gains ectopic enhancer activity in wing and haltere discs, while losing activity in the native ventral zone. In the heterozygous embryo, ventral activity is fully restored to WT levels, while we only see partial dominance of the WT allele in the discs. (9/18)
On the left, representative images of a homozygous wildtype E3N-lacZ, homozygous mutant 145-2-lacZ, and a heterozygous embryo at stage 15. The embryo is stained with a β-gal antibody against the lacZ reporter protein β-gal. 
Marked in a mustard-yellow box is the region of abdominal stripe 2 (A2) where β-gal reporter intensity was measured across embryos. Marked in blue circles are the wing and haltere discs where β-gal reporter intensity was measured across embryos. On the right, boxplots of the mean fluorescence intensity of the β-gal reporter within the A2 stripe, and the wing and haltere discs, haltere disc of different embryos of the 145-2 E3N variant at stage 15.
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
We then asked, could a wild-type allele also decrease pleiotropic expression caused by enhancer mutations? For this, we looked at multiple synthetic E3N enhancer variants we previously created. (8/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
We tested two scenarios: in one, mutations accumulate in a homozygous manner from mel to sim. In the other, mutations accumulate on only one allele, and the other remains "mel" until the end. We observed dominance among heterozygous mutational steps that masked expression-reducing mutations. (7/18)
A comparison of one of the evolutionary trajectories from mel to sim when every step is homozygous (represented as circles) versus heterozygous (squares), where one allele remains mel up until the last step to sim. Below are representative embryos from some of the variants shown.
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Since new mutations arise in single copies, natural selection initially acts on heterozygous genotypes in diploids. Therefore, we wondered how this genotype-phenotyope landscape might be navigated via heterozygous intermediates. (6/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
In addition, we also observe non-additive effects between combinations of different mutational events (epistasis), both pairwise and higher-order, which has been suggested to constrain enhancer evolution. (5/18)
Example of epistasis in the evolutionary trajectory of E3N. Variant 01000 has a significant negative effect on the nuclear β-gal intensity of mel (00000) (ε1 = -0.278, p = 0.016), whereas variant 00001 has no significant effect (ε1 = -0.089, p = 0.132) on mel. When the two variants are combined, there is a positive epistatic effect on the nuclear β-gal intensity of mel (ε2 = 0.468, p = 0.005). On the left there is a barplot showing this, and on the right there are representative embryos from each line.
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Many mutational combinations in this genotype-phenotype map markedly alter enhancer activity, which is in stark contrast to the limited natural variation and conserved regulatory output observed in the D. melanogaster E3N enhancer. (4/18)
On the left representative embryos for every line in the combinatorial E3N library showing the differences in the striped gene expression pattern of the lacZ reporter. On the right the combinatorial evolutionary paths showing the possible intermediate forms from the genetic E3N sequence of melanogaster (mel) to simulans (sim). Shown colors represent the average nuclear intensity
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
We examined the evolutionary trajectories of a fragile, pleiotropic enhancer by testing the enhancer activity of all the intermediate sequences between the D. melanogaster and D. simulans E3N enhancer, who diverged 1-3 Mya. (3/18)
Sequence alignment of E3N in D. melanogaster and D. simulans, and below an evolutionary tree of the melanogaster species subgroup showing the changes in the E3N enhancer since the divergence of D. melanogaster and D. simulans 1.4-3.4 Mya, and the divergence of erecta complex 3.4-12 Mya. Here, ACD is the most likely ancestral version of the enhancer given the modern-day sequence of D. erecta.
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Enhancers often exhibit high degrees of mutational fragility, yet across evolution many of their expression patterns remain conserved: how can enhancers accumulate mutations and acquire new functions without compromising developmental programs? (2/18)
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Noa Ottilie Borst @ottilie.bsky.social · 18/03/2026
Excited to share my first preprint from my PhD w/ @justinmcrocker.bsky.social. We show that cell type-specific regulatory dominance promotes robustness and evolutionary innovation through interallelic transcriptional hubs, potentially expanding the mutational paths available to diploids. (1/18)
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Takashi Fukaya @fukayalab.bsky.social · 05/02/2026
New preprint from the lab! We identify the ZnF protein Mulberry as a condensation-dependent structural regulator of genome topology that organizes “multi-way regulatory hubs” in early Drosophila embryos. www.biorxiv.org/content/10.6...
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Michalis Averof @michalis-averof.bsky.social · 04/02/2026
Just discovered the wonderful covers of 'Genes to Cells', the journal of the Molecular Biology Society of Japan @mbsj-official.bsky.social – absolutely beautiful! here some examples inspired by mitosis, CRISPR, the DNA helix, and plant pigments
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Justin Crocker @justinmcrocker.bsky.social · 30/01/2026
🧬✨ New 2-part review on the evolution of regulatory DNA (enhancers & promoters)! What started as conversations between Gasper Tkačik @istaresearch.bsky.social and our group @embl.org grew into a broader synthesis. Preprints here: Part 1: arxiv.org/abs/2601.19681 Part 2: arxiv.org/abs/2601.21480
arxiv.org
Long-term evolution of regulatory DNA sequences. Part 1: Simulations on global, biophysically-realistic genotype-phenotype maps
Promoters and enhancers are cis-regulatory elements (CREs), DNA sequences that bind transcription factor (TF) proteins to up- or down-regulate target genes. Decades-long efforts yielded TF-DNA interac...
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Reposted by Noa Ottilie Borst
EMBL DB unit @embldbunit.bsky.social · 14/11/2025
✨This week at the DB unit seminar @embl.org, Noa Ottilie Borst, a PhD student in the Crocker group @justinmcrocker.bsky.social presented her work on cell-type-specific interallelic interactions, and how they simultaneously allow for robustness and evolutionary innovation.
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Timothy Fuqua 🏳️‍🌈 @timothyfuqua.bsky.social · 24/06/2025
Hey y'all, grant-pending, I may be unemployed starting from October. If you have any leads on biotech / postdoc positions in the German-speaking part of Switzerland, I'd greatly appreciate a message. I'm great with Data Analysis, Molecular Biology, and Teaching. (Plz RT!) More at timothyfuqua.com
timothyfuqua.com
Home | Timothy Fuqua
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Lucas Waltzer @lucaswaltzer.bsky.social · 03/06/2025
#drosophila @flybase.bsky.social request emergency funding: "As it stands, by the end of July, 2025, there will be no future updates to FlyBase, and in the worst case scenario access to the website will also be lost" => please donate! www.philanthropy.cam.ac.uk/give-to-camb...
philanthropy.cam.ac.uk
Drosophila Genetic Database
The Drosophila Genetic Database, FlyBase, is on the brink of collapse due to the sudden termination of the FlyBase NIH grant, which includes salaries for 5 literature curators based at the University ...
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Justin Crocker @justinmcrocker.bsky.social · 16/05/2025
Leaving synthetic pesticides behind | Science www.science.org/doi/10.1126/... Nice write-up on our work from @embl.org, along with possible solutions.
science.org
Leaving synthetic pesticides behind
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Aafke Gros @aafkegros.bsky.social · 30/01/2025
Quantifying distribution of intensity can be very helpful in many biological systems. For example, in D. melanogaster data, we extract a peak for the level of embryonic patterning in development. 🪰 In collaboration with @ottilie.bsky.social, @timothyfuqua.bsky.social, @justinmcrocker.bsky.social
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Aafke Gros @aafkegros.bsky.social · 30/01/2025
Now out in PLOS CB: Spherical Texture extraction! doi.org/10.1371/jour... This method quantifies the intensity distribution in microscopy objects, and is implemented parameter-free in @ilastik-team.bsky.social object classification! We show applications in cells, C. elegans and Drosophila! 😁
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Justin Crocker @justinmcrocker.bsky.social · 21/01/2025
Nice write-up about our work from Philip Batterham. Agrochemicals: Insect declines in a warming world: Current Biology www.cell.com/current-biol...
cell.com
Agrochemicals: Insect declines in a warming world
Worldwide declines in the abundance of non-pest insects threaten ecosystems, food production and human wellbeing. A large-scale study has systematically examined field and environmental levels of 1,02...
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