This study identifies a chimpanzee-specific retroviral insertion that influences gene regulation and brain development, highlighting its role in human-chimpanzee brain divergence.

bioRxiv · Dec 12, 2025 · PreprintEvolutionary Biology

LINE-1 retrotransposons regulate the exit of human pluripotency and early brain development

Anita Adami, Raquel Garza, Patricia Gerdes, Pia Annette Johansson, Fereshteh Dorazehi, Symela Koutounidou, Laura Castilla‐Vallmanya, Diahann A. M. Atacho, Yogita Sharma, Jonas Johansson, Oliver H. Tam, Agnete Kirkeby, Roger A. Barker, Molly Hammell, Christopher H. Douse, Johan Jakobsson

This study shows that L1 retrotransposons influence human pluripotency exit and early brain development through their expression and derived transcripts.

Cell Genomics · Aug 22, 2025Peer-reviewedDevelopmental Biology

L1 retrotransposons drive human neuronal transcriptome complexity and functional diversification

Raquel Garza, Diahann A. M. Atacho, Anita Adami, Patricia Gerdes, Meghna Vinod, PingHsun Hsieh, Ofelia Karlsson, Vivien Horváth, Pia Annette Johansson, Ninoslav Pandiloski, Jon Matas-Fuentes, Annelies Quaegebeur, Antonina Kouli, Yogita Sharma, Marie E. Jönsson, , Johan Jakobsson

This study shows L1 retrotransposons contribute to human brain transcriptome complexity and functional diversification through cell-type specific transcripts and regulatory RNAs.

Science Advances · Nov 1, 2023Peer-reviewedNeuroscience

Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease

Vivien Horváth, Raquel Garza, Marie E. Jönsson, Pia Annette Johansson, Anita Adami, Georgia Christoforidou, Ofelia Karlsson, Laura Castilla‐Vallmanya, Patricia Gerdes, Ninoslav Pandiloski, Christopher H. Douse, Johan Jakobsson

The paper shows that ZNF91 creates mini-heterochromatin domains that limit the regulatory impact of SVA transposons in human neural progenitor cells, contributing to XDP pathology.

bioRxiv · Oct 20, 2023 · PreprintNeuroscience

Distinct sub-cellular autophagy impairments occur independently of protein aggregation in induced neurons from patients with Huntington's disease

Karolina Pircs, Janelle Drouin‐Ouellet, Jeovanis Gil, Melinda Rezeli, Daniela A. Grassi, Raquel Garza, Yogita Sharma, Isabelle St‐Amour, Marie E. Jönsson, Pia Annette Johansson, Kate L. Harris, Romina Vuono, Thomas B. Stoker, Bob A. Hersbach, Kritika Sharma, , Johan Jakobsson

This study shows that induced neurons from Huntington's disease patients have impaired autophagy in neurites, independent of protein aggregation, and that HTT is critical for neuronal autophagy.

bioRxiv · Mar 1, 2021 · PreprintNeuroscience

A human-specific structural variation at the ZNF558 locus controls a gene regulatory network during forebrain development

Pia Annette Johansson, Per Ludvik Brattås, Christopher H. Douse, PingHsun Hsieh, Julien Pontis, Daniela A. Grassi, Raquel Garza, Marie E. Jönsson, Diahann A. M. Atacho, Karolina Pircs, Feride Eren, Yogita Sharma, Jenny Johansson, Didier Trono, Evan E. Eichler, Johan Jakobsson

The paper identifies a human-specific structural variation at the ZNF558 locus that regulates a gene network involved in forebrain development by controlling SPATA18 expression through a VNTR contraction.

bioRxiv · Aug 18, 2020 · PreprintGenetics

Activation of endogenous retroviruses during brain development causes neuroinflammation

Marie E. Jönsson, Raquel Garza, Yogita Sharma, Rebecca Petri, Erik Södersten, Jenny G Johansson, Pia Annette Johansson, Diahann A. M. Atacho, Karolina Pircs, Sofia Madsen, David Yudovich, Ramprasad Ramakrishnan, Johan Holmberg, Jonas Larsson, Patric Jern, Johan Jakobsson

This study shows that activation of endogenous retroviruses during brain development leads to neuroinflammation in adult mice.

bioRxiv · Jul 7, 2020 · PreprintNeuroscience