INGEBI   02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Functional analysis of the human accelerated elements grouped in the locus of RBFOX1
Autor/es:
LUCÍA F. FRANCHINI; LARA BERASAIN
Lugar:
Buenos Aires
Reunión:
Congreso; FALAN 2016; 2016
Institución organizadora:
FALANN
Resumen:
What makes us different from great apes and earlier hominids? How are our capacities for language, reason and culture encoded in our genome? And where in our larger brains do these capacities reside? These are some of the challenging questions scientists face this century. Our hypothesis is that the acquisition of new expression patterns in the human lineage of genes involved with the development of the brain would have been critical for the evolution of our unique cognitive capacities. This new expression patterns would be encoded in sequence changes in the regulatory elements of genes that are expressed in the brain. The aim of this study is to perform a functional analysis of the conserved non-coding sequences that are accelerated in the human lineage (HAEs) and have the potential to act as regulatory elements. Particularly, the splicing factor, RBFOX1 holds 8 HAEs in its locus. This unusual accumulation of HAEs suggests that in humans RBFOX1 might have acquired a new feature that underlies some unique ability to the human brain. RBFOX1 is highly expressed in the brain during development and its dysfunction has been associated to epilepsy and autism. Using an enhancer assay in transgenic zebrafish we show that 5 out of the 8 HAEs drove the expression of the reporter gene EGFP during zebrafish development in the nervous system. Our future work will study if these RBFOX1-HAEs drive new expression patterns that could have determined changes in the development of our brain.