{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T14:51:11Z","timestamp":1782485471244,"version":"3.54.5"},"reference-count":0,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Retrotransposition has generated thousands of intronless gene copies in mammalian genomes, yet their contribution to brain development and evolution remains largely unexplored. RBMX encodes an X-linked RNA-binding protein involved in pre-mRNA splicing. RBMX has highly similar retrocopies, RBMXL1, which arose independently in primates and rodents, suggesting convergent evolutionary pressure and potential functional compensation.<\/jats:p>\n                  <jats:p>We identified individuals with RBMX variants through exome sequencing and GeneMatcher. We combined transcriptomic profiling, protein-protein and protein\u2013RNA interaction studies both in human cellular models and mouse embryonic cortices to assess the functional redundancy between RBMX and its retrocopy RBMXL1. Finally, we use mouse genetics to dissect RBMX function and its compensation by RBMXL1 in corticogenesis.<\/jats:p>\n                  <jats:p>Hemizygous RBMX variants lead to neurodevelopmental disorders characterized by intellectual disability and variable brain, ocular, and genital malformations. N-terminal variants include missense changes and in-frame deletions, whereas truncating variants clustered in the final exon. RBMX pathogenic variants disrupt cortical development through both partial loss-of function (C-terminal variants) and gain-of-function (N-terminal variants) mechanisms. Despite severe phenotypes in humans, Rbmx-deficient mice display only mild cortical abnormalities. We demonstrate that RBMX and RBMXL1 share protein and RNA partners and act redundantly in brain development, with RBMXL1 buffering the impact of RBMX deficiency.<\/jats:p>\n                  <jats:p>Together, these findings establish RBMXL1 as a functional paralog of RBMX that is likely buffering deleterious variation in a context- and dosage-dependent manner. More broadly, these results identify retrocopies as active contributors to neurodevelopmental robustness and suggest that functional retrocopies may have facilitated the evolutionary diversification of the mammalian brain.<\/jats:p>","DOI":"10.1093\/brain\/awag218","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:54:33Z","timestamp":1782302073000},"source":"Crossref","is-referenced-by-count":0,"title":["RBMX functional retrocopy safeguards brain development in a species-dependent context"],"prefix":"10.1093","author":[{"given":"Pierre","family":"Tilliole","sequence":"first","affiliation":[{"name":"IGBMC, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire , 67400, Illkirch ,","place":["France"]},{"name":"CNRS, Centre National de la Recherche Scientifique, UMR 7104 , 67400, Illkirch ,","place":["France"]},{"name":"INSERM, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR-S 1258 , 67400, Illkirch ,","place":["France"]},{"name":"Universit\u00e9 de Strasbourg, IGBMC UMR 7104- UMR-S 1258 , 67400, Illkirch ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin","family":"Mattausch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen , 45147, Essen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peggy","family":"Tilly","sequence":"additional","affiliation":[{"name":"IGBMC, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire , 67400, Illkirch ,","place":["France"]},{"name":"CNRS, Centre National de la Recherche Scientifique, UMR 7104 , 67400, Illkirch ,","place":["France"]},{"name":"INSERM, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR-S 1258 , 67400, Illkirch ,","place":["France"]},{"name":"Universit\u00e9 de Strasbourg, IGBMC UMR 7104- UMR-S 1258 , 67400, Illkirch ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Leit\u00e3o","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen , 45147, Essen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Boutaud","sequence":"additional","affiliation":[{"name":"Assistance Publique- H\u00f4pitaux de Paris (APHP), Service de M\u00e9decine G\u00e9nomique des Maladies Rares, H\u00f4pital Necker-Enfants malades , 75015, Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, IHU Imagine \u2013 Institut des maladies g\u00e9n\u00e9tiques , 75015, Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphn\u00e9","family":"Lehalle","sequence":"additional","affiliation":[{"name":"Assistance Publique- H\u00f4pitaux de Paris (APHP) Sorbonne Universit\u00e9, D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75651, Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"An","sequence":"additional","affiliation":[{"name":"Assistance Publique- H\u00f4pitaux de Paris (APHP) Sorbonne Universit\u00e9, D\u00e9partement de Neurologie, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , 75651, Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California , 94143, San Francisco, CA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Aufox","sequence":"additional","affiliation":[{"name":"Stanley Manne Children\u2019s Research Institute, Ann & Robert H. 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L","family":"Temple","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Liverpool Hospital , 6009, Sydney, NSW ,","place":["Australia"]},{"name":"School of Women's and Children's Health, University of New South Wales , 6009, Sydney, NSW ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jude-Felix","family":"Tenywa","sequence":"additional","affiliation":[{"name":"IGBMC, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire , 67400, Illkirch ,","place":["France"]},{"name":"CNRS, Centre National de la Recherche Scientifique, UMR 7104 , 67400, Illkirch ,","place":["France"]},{"name":"INSERM, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR-S 1258 , 67400, Illkirch ,","place":["France"]},{"name":"Universit\u00e9 de Strasbourg, IGBMC UMR 7104- UMR-S 1258 , 67400, Illkirch 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,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Rhinn","sequence":"additional","affiliation":[{"name":"IGBMC, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire , 67400, Illkirch ,","place":["France"]},{"name":"CNRS, Centre National de la Recherche Scientifique, UMR 7104 , 67400, Illkirch ,","place":["France"]},{"name":"INSERM, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, UMR-S 1258 , 67400, Illkirch ,","place":["France"]},{"name":"Universit\u00e9 de Strasbourg, IGBMC UMR 7104- UMR-S 1258 , 67400, Illkirch ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan C","family":"Collins","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, INSERM Research Center U1231 , 21070, Dijon 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