English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Mutations in the coding region of  FOXP2  are known to cause speech and language impairment. However, it is not clear how dysregulation of the gene contributes to language deficit. Interestingly, microdeletions of the region downstream the gene have been associated with cognitive deficits.    Methods  Here, we investigate changes in  FOXP2  expression in the SK-N-MC neuroblastoma human cell line after deletion by CRISPR-Cas9 of two enhancers located downstream of the gene.    Results  Deletion of any of these two functional enhancers downregulates  FOXP2 , but also upregulates the closest 3′ gene  MDFIC . Because this effect is not statistically significant in a HEK 293 cell line, derived from the human kidney, both enhancers might confer a tissue specific regulation to both genes. We have also found that the deletion of any of these enhancers downregulates six well-known FOXP2 target genes in the SK-N-MC cell line.    Conclusions  We expect these findings contribute to a deeper understanding of how  FOXP2  and  MDFIC  are regulated to pace neuronal development supporting cognition, speech and language.    Electronic supplementary material  The online version of this article (10.1186/s12881-019-0810-2) contains supplementary material, which is available to authorized users.

Functional characterization of two enhancers located downstream FOXP2