RT Journal Article
T1 Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions
A1 Navas-Pérez, Enrique
A1 Vicente-García, Cristina
A1 Mirra, Serena
A1 Burguera, Demian
A1 Fernàndez-Castillo, Noèlia
A1 Ferrán, José Luis
A1 López-Mayorga, Macarena
A1 Alaiz-Noya, Marta
A1 Suárez-Pereira, Irene
A1 Antón-Galindo, Ester
A1 Ulloa, Fausto
A1 Herrera-Úbeda, Carlos
A1 Cuscó, Pol
A1 Falcón-Moya, Rafael
A1 Rodríguez-Moreno, Antonio
A1 D'Aniello, Salvatore
A1 Cormand, Bru
A1 Marfany, Gemma
A1 Soriano, Eduardo
A1 Carrión, Ángel M.
A1 Carvajal, Jaime J.
A1 Garcia-Fernàndez, Jordi
K1 Genetic novelty
K1 Transposon domestication
K1 Bex3
K1 Tceal
K1 Placental mammals
K1 Gene cluster
K1 Neurodevelopmental disorders
K1 mTOR
K1 Autism spectrum disorder
K1 Euterios
K1 Familia de multigenes
K1 Trastornos del neurodesarrollo
K1 Serina-treonina quinasas TOR
K1 Trastorno del espectro autista
AB BackgroundOne 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.ResultsHere, 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.ConclusionsWe 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.
PB BioMed Central, Springer Nature
YR 2020
FD 2020-10-06
LK http://hdl.handle.net/10668/3788
UL http://hdl.handle.net/10668/3788
LA en
NO Navas-Pérez E, Vicente-García C, Mirra S, Burguera D, Fernàndez-Castillo N, Ferrán JL, et al. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions. Genome Biol. 2020 Oct 26;21(1):267
DS RISalud
RD Apr 19, 2025