Article

RBMX functional retrocopy safeguards brain development

2025-10-24

Abstract excerpt

<h4>ABSTRACT</h4> Retrotransposition has generated thousands of intronless gene copies in mammalian genomes, yet their contribution to brain development and evolution remains largely unexplored. Here we uncover a critical role for RBMX retrocopy in shaping neurodevelopment and modulating disease. Pathogenic variants in RBMX , an X-linked splicing regulator, cause intellectual disability, microcephaly, and cortic...

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Literature Corpus work: 1801df43-81af-56bc-92da-dc00d98580d9
DOI: 10.1101/2025.10.17.25337589

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