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Title: Characterisation of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
Author: Navas Pérez, Enrique
Vicente García, Cristina
Mirra, Serena
Burguera Hernández, Demian
Fernàndez Castillo, Noèlia
Ferrán, José Luis
López Mayorga, Macarena
Alaiz Noya, Marta
Suárez Pereira, Irene
Antón Galindo, Ester
Ulloa Darquea, Fausto Alexander
Herrera Úbeda, Carlos
Cuscó, Pol
Falcón Moya, Rafael
Rodríguez Moreno, Antonio
D'Aniello, Salvatore
Cormand Rifà, Bru
Marfany i Nadal, Gemma
Soriano García, Eduardo
Carrión, Ángel M.
Carvajal, Jaime J.
Garcia Fernández, Jordi
Keywords: Genètica humana
Human genetics
Issue Date: 26-Oct-2020
Publisher: BioMed Central
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. Conclusions We provide an in-depth understanding of the emergence of a gene cluster that originated by transposon domestication and gene duplication at the origin of placental mammals, an evolutionary process that transformed a non-functional transposon sequence into novel components of the eutherian genome. These genes were integrated into existing signaling pathways involved in the development, maintenance, and function of the CNS in eutherians. At least one of its members, Bex3, is relevant for higher brain functions in placental mammals and may be involved in human neurological disorders.
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It is part of: Genome Biology, 2020, vol. 21, p. 267
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ISSN: 1474-7596
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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