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Novo, F. J.

Publications and source records attributed to Novo, F. J..

2 recordsLinked to original sources

Characterization Of An Enhancer Element That Regulates FOXP2 Expression In Human Cerebellum

Human cerebellum is involved not only in motor control but also in several cognitive skills. In this work, our goal was to identify genomic enhancers responsible for the regulation of genes implicated in the development of this brain region. From an initial collection of Vista elements showing specific enhancer activity in mouse hindbrain, we found an enhancer element located within the final intron of FOXP2, a gene expressed in cerebellum and implicated in vocal communication and speech and language disorders in humans. Analysis of this enhancer using various computational resources suggests that it is a strong candidate to account for FOXP2 expression during cerebellar development. Two blocks within this region are deeply conserved in vertebrates; they are separated by a microsatellite sequence present only in eutherian mammals, and expanded in human genomes.

genomics↗

Identification And Evolutionary Analysis Of Eight Non-Coding Genomic Elements Regulating Neurodevelopmental Genes

Many non-coding regulatory elements conserved in vertebrates regulate the expression of genes involved in development and play an important role in the evolution of morphology through the rewiring of developmental gene networks. Available biological datasets allow the identification of non-coding regulatory elements with high confidence; furthermore, chromatin conformation data can be used to confirm enhancer-promoter interactions in specific tissue types and developmental stages. We have devised an analysis pipeline that integrates datasets about gene expression, enhancer activity, chromatin accessibility, epigenetic marks, and Hi-C contact frequencies in various brain tissues and developmental stages, leading to the identification of eight non-coding elements that might regulate the expression of three genes with important roles in brain development in vertebrates. We have then performed comparative sequence and microsynteny analyses in order to reconstruct the evolutionary history of the regulatory landscape around these genes; we observe a general pattern of ancient regulatory elements conserved across most vertebrate lineages, together with younger elements that appear to be mammal and primate innovations. This preprint has been reviewed and recommended by Peer Community In Evolutionary Biology (http://dx.doi.org/10.24072/pci.evolbiol.100035)

evolutionary biology↗