Sara R Heras

Avanzamos en nuestras investigaciones sobre el síndrome #22q11. @herassr.bsky.social presentará los nuevos resultados publicados por nuestro grupo de investigación en la próxima conferencia internacional 22q11 que se celebrará en Creta en julio.

Gracias a la asociación 22q Andalucía por su apoyo. 💪🏻

Mañana 22 de Noviembre es el Día Internacional del Síndrome 22q #22q11. En el grupo de @herassr.bsky.social en Genyo nos hemos sumado a su visibilización.

#hazvisible22q

Deeply greatful to the 22q11.2 Andalucia Association and to all the artists and attendencees who filled the theater yesterday in Granada!! Your support helps us to move forward in understanding 22q11 Deletion Syndrome. #22q #22q11 #GENYO#UGR

TE x ZFP = Evolution!
Writing this with Olga @orpsf.bsky.social & Didier @trono-lab.bsky.social was a major highlight of my 🇨🇭sabbatical. Such a treat! 🍫Hope you enjoy it as much as we enjoy piecing it together.

A human-specific regulatory mechanism revealed in a pre-implantation model Nature - Genetic manipulation of blastoids reveals the role of recently emerged transposable elements and genes in human development.

Today in @nature.com, we present our work leveraging functional genomics and human blastoids to uncover a human-specific mechanism in preimplantation development driven by the endogenous retrovirus HERVK.
Special thanks to the reviewers whose comments improved our manuscript a lot! rdcu.be/eI3tD

Control of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8 The type I interferon (IFN) response is the main innate immune pathway against viruses in mammals. This pathway must be tightly regulated to prevent viral spread while avoiding excessive immune respon...

Happy to have played a small part in this new preprint on DGCR8, retrotransposons, and IFN regulation. Nice collaboration with @saramaciasrna.bsky.social @herassr.bsky.social

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

Control of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8 The type I interferon (IFN) response is the main innate immune pathway against viruses in mammals. This pathway must be tightly regulated to prevent viral spread while avoiding excessive immune respon...

🚨 Our new preprint!
In collaboration with @saramaciasrna.bsky.social and @heick.bsky.social labs
🧬 Control of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8 and its implications in 22q11.2 deletion syndrome.
#22q11 #TEsky #RNAsky

Control of retrotransposon-driven activation of the interferon response by the double-stranded RNA binding protein DGCR8 The type I interferon (IFN) response is the main innate immune pathway against viruses in mammals. This pathway must be tightly regulated to prevent viral spread while avoiding excessive immune respon...

In our last preprint we identify endogenous dsRNAs capable of activating the interferon response. Could these be relevant to our understanding of DiGeorge syndrome (22qDS)?

In collaboration with @herassr.bsky.social and @heick.bsky.social labs

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

Exciting work! Plasmids are available at Addgene: www.addgene.org/browse/artic...

nucleoli are dynamically reprogrammed in early mammalian development

The nucleolus....large, rather boring organelle in the nucleus? No! Our review led by @bryonyleeke.bsky.social just out @dev-journal.bsky.social, highlighting new findings on nucleoli dynamics in development, intriguing roles in chromatin organisation & more.

journals.biologists.com/dev/article/...

I am thrilled to share our preprint where we take advantage of the unique opportunities offered by human blastoids to uncover a human-specific mechanism potentially playing a role in preimplantation 🧵. www.biorxiv.org/content/10.1...

Human-specific transposable elements shaped the evolution of craniofacial development through regulation of neural crest migration Craniofacial development and neural crest specification are evolutionarily conserved processes, yet subtle modifications to their gene regulatory networks drive species-specific craniofacial diversity...

New preprint from my group! Here we studied the contribution of a subset of human- and hominoid-specific transposons (SVA, LTR5HS) to the evolution of human craniofacial development. We specifically focussed on cranial neural crest (CNCC) formation and migration 1/n
www.biorxiv.org/content/10.1...

OGT prevents DNA demethylation and suppresses the expression of transposable elements in heterochromatin by restraining TET activity genome-wide - Nature Structural & Molecular Biology Here the authors show that the disruption of OGT expression in mouse embryonic stem cells unleashes TET activity, causing genome-wide decreases in DNA methylation and increases in 5-hydroxymethylcytos...

Epigenetics Update - OGT prevents DNA demethylation and suppresses the expression of transposable elements in heterochromatin by restraining TET activity genome-wide go.nature.com/4laK9MG

#Epigenetics #DNAdemethylation #mESCs
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Gain deeper insights into gene regulation; epigenometech.com

We will put forward a 500 million package for 2025-2027 to make Europe a magnet for researchers.

As well as ambitious proposals for R&I in the next EU budget.

We will also offer the best and brightest the right incentives to come to Europe ↓

Gag proteins encoded by endogenous retroviruses are required for zebrafish development | PNAS Transposable elements (TEs) make up the bulk of eukaryotic genomes and examples abound of TE-derived sequences repurposed for organismal function. ...

💥🥳 At long last, our latest paper is out!

Gag proteins of endogenous retroviruses are required for zebrafish development

www.pnas.org/doi/10.1073/...

Led heroically by Sylvia Chang & @jonowells.bsky.social

A study which has changed the way I think of #transposons! No less! 🧵 1/n

Esta pérdida de un alelo de DGCR8 ocurre en el síndrome 22q11 y señala que no siempre los modelos de ratón reflejan la complejidad en humana.

Gracias a los coautores y las IPs @herassr.bsky.social y @saramaciasrna.bsky.social, así como a @uji.es

Artículo aquí ➡️ academic.oup.com/nar/article/...

🔴 NUEVO ARTÍCULO DE NUESTRO GRUPO en @narjournal.bsky.social!!! 🧬 #TEsky

La pérdida de un alelo del gen DGCR8 en células madre embrionarias humanas afecta a su pluripotencia interfiriendo en una red de elementos transponibles y microARNs que es específica de primates. (1/2)

DGCR8 haploinsufficiency leads to primate-specific RNA dysregulation and pluripotency defects Abstract. The 22q11.2 deletion syndrome (22qDS) is a human disorder where the majority of clinical manifestations originate during embryonic development. 2

Our latest paper is out in NAR! 🥳
In collaboration with @saramaciasrna.bsky.social, we show DGCR8 haploinsufficiency disrupts pluripotency in hESC by affecting primate-specific miRNAs and TEs. Our findings highlight a co-evolved miRNA-TE network in primates.
Read:
academic.oup.com/nar/article-...

Our last paper in collaboration with Sara RHeras is finally out 🥳we modelled Dgcr8 haploinsufficiency in hESCs and exciting differences between 🧘🏽‍♂️and 🐭 at the transposon and miRNA content -HERVH & C19MC
Thanks to all the coauthors and funders

academic.oup.com/nar/article/...

No os perdáis este artículo sobre la relación entre los microARN y el cáncer. Por @herassr.bsky.social y nuestro socio Pablo Tristán