Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for a
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RESEARCH
Open Access
Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions Enrique Navas-Pérez1†, Cristina Vicente-García2†, Serena Mirra1,3,4,5†, Demian Burguera1,6, Noèlia Fernàndez-Castillo1,4,7, José Luis Ferrán8, Macarena López-Mayorga2, Marta Alaiz-Noya9,10, Irene Suárez-Pereira9,11, Ester Antón-Galindo1, Fausto Ulloa3,5, Carlos Herrera-Úbeda1, Pol Cuscó12,13, Rafael Falcón-Moya9, Antonio Rodríguez-Moreno9, Salvatore D’Aniello14, Bru Cormand1,4,7, Gemma Marfany1,4,7, Eduardo Soriano3,5,15, Ángel M. Carrión9, Jaime J. Carvajal2* and Jordi Garcia-Fernàndez1* * Correspondence: [email protected]; [email protected] † Enrique Navas-Pérez, Cristina Vicente-García and Serena Mirra contributed equally to this work. 2 Centro Andaluz de Biología del Desarrollo, CSIC-UPO-JA, Universidad Pablo de Olavide, 41013 Sevilla, Spain 1 Department of Genetics, Microbiology and Statistics, Faculty of Biology, and Institut de Biomedicina (IBUB), University of Barcelona, 08028 Barcelona, Spain Full list of author information is available at the end of the article
Abstract Background: One of the most unusual sources of phylogenetically restricted genes is the molecular domestication of transposable elements into a host genome as functional genes. Although these kinds of events are sometimes at the core of key macroevolutionary changes, their origin and organismal function are generally poorly understood. Results: Here, we identify several previously unreported transposable element domestication events in the human and mouse genomes. Among them, we find a remarkable molecular domestication that gave rise to a multigenic family in placental mammals, the Bex/Tceal gene cluster. These genes, which act as hub proteins within diverse signaling pathways, have been associated with neurological features of human patients carrying genomic microdeletions in chromosome X. The Bex/Tceal genes display neural-enriched patterns and are differentially expressed in human neurological disorders, such as autism and schizophrenia. Two different murine alleles of the cluster member Bex3 display morphological and physiopathological brain modifications, such as reduced interneuron number and hippocampal electrophysiological imbalance, alterations that translate into distinct behavioral phenotypes. (Continued on next page)
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