Sara R Heras
@herassr.bsky.social
Transposable elements in development and disease
Pinned
Sara R Heras
@herassr.bsky.social
· Mar 27
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
academic.oup.com
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-...
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-...
Reposted by Sara R Heras
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
Special thanks to the reviewers whose comments improved our manuscript a lot! rdcu.be/eI3tD
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.
rdcu.be
October 1, 2025 at 6:08 PM
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
Special thanks to the reviewers whose comments improved our manuscript a lot! rdcu.be/eI3tD
Reposted by Sara R Heras
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...
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...
www.biorxiv.org
June 2, 2025 at 12:03 PM
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...
www.biorxiv.org/content/10.1...
🚨 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
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...
www.biorxiv.org
June 3, 2025 at 3:09 PM
🚨 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
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
Reposted by Sara R Heras
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...
In collaboration with @herassr.bsky.social and @heick.bsky.social labs
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...
www.biorxiv.org
June 2, 2025 at 12:55 PM
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...
In collaboration with @herassr.bsky.social and @heick.bsky.social labs
www.biorxiv.org/content/10.1...
Reposted by Sara R Heras
Exciting work! Plasmids are available at Addgene: www.addgene.org/browse/artic...
May 20, 2025 at 1:49 PM
Exciting work! Plasmids are available at Addgene: www.addgene.org/browse/artic...
Reposted by Sara R Heras
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/...
journals.biologists.com/dev/article/...
May 14, 2025 at 3:29 PM
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/...
journals.biologists.com/dev/article/...
Reposted by Sara R Heras
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...
May 12, 2025 at 8:25 PM
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...
Reposted by Sara R Heras
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...
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...
www.biorxiv.org
April 7, 2025 at 1:26 PM
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...
www.biorxiv.org/content/10.1...
Reposted by Sara R Heras
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
#Epigenetics #DNAdemethylation #mESCs
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Gain deeper insights into gene regulation; epigenometech.com
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...
go.nature.com
April 2, 2025 at 7:25 AM
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
---
Gain deeper insights into gene regulation; epigenometech.com
#Epigenetics #DNAdemethylation #mESCs
---
Gain deeper insights into gene regulation; epigenometech.com
Reposted by Sara R Heras
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 ↓
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 ↓
May 5, 2025 at 10:02 AM
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 ↓
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 ↓
Reposted by Sara R Heras
💥🥳 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
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
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. ...
www.pnas.org
April 30, 2025 at 10:45 AM
💥🥳 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
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
Reposted by Sara R Heras
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/...
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/...
March 27, 2025 at 11:47 AM
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/...
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/...
Reposted by Sara R Heras
🔴 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)
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)
March 27, 2025 at 11:47 AM
🔴 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)
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)
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-...
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-...
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
academic.oup.com
March 27, 2025 at 10:13 AM
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-...
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-...
Reposted by Sara R Heras
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/...
Thanks to all the coauthors and funders
academic.oup.com/nar/article/...
March 27, 2025 at 9:46 AM
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/...
Thanks to all the coauthors and funders
academic.oup.com/nar/article/...
Reposted by Sara R Heras
No os perdáis este artículo sobre la relación entre los microARN y el cáncer. Por @herassr.bsky.social y nuestro socio Pablo Tristán
Se ha publicado en @muyinteresante.com un artículo divulgativo escrito por @herassr.bsky.social y Pablo Tristán sobre el papel fundamental que juega el microARN let-7 como supresor de tumores evitando la movilización del transposón LINE-1. www.muyinteresante.com/fundacion/ca...
Células descontroladas: Qué hemos aprendido sobre el genoma y el cáncer
Descubre cómo los microARN, como let-7, y los retrotransposones LINE-1 influyen en la estabilidad genética y la progresión del cáncer, basándonos en investigaciones innovadoras que revelan nuevos meca...
www.muyinteresante.com
January 20, 2025 at 6:14 PM
No os perdáis este artículo sobre la relación entre los microARN y el cáncer. Por @herassr.bsky.social y nuestro socio Pablo Tristán