Functional characterization of two enhancers located downstream FOXP2.

ABSTRACT:

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 bo

SUBMITTER: Torres-Ruiz R 

PROVIDER: S-EPMC6498672 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature