ArticleBMC medical genetics2019
Functional characterization of two enhancers located downstream FOXP2.
Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Characterization of the chromosome 7 locus associated with suicidal behavior.Molecular psychiatry · 2026Article
- A LINE-1 insertion upstream of FOXP2 promotes neuronal differentiation during primate evolution.Genome biology · 2026Article
- CRISPR/Cas-Based Approaches to Study Schizophrenia and Other Neurodevelopmental Disorders.International journal of molecular sciences · 2022Review
- A 9.8 Mb deletion at 7q31.2q31.31 downstream ofClinical case reports · 2022Article
- A comprehensive in silico analysis of the deleterious nonsynonymous SNPs of human FOXP2 protein.PloS one · 2022Article
- Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans.Genome research · 2021Article
- Cellular Models in Schizophrenia Research.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations 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.
methodsHere, 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.
resultsDeletion 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.
conclusionsWe expect these findings contribute to a deeper understanding of how FOXP2 and MDFIC are regulated to pace neuronal development supporting cognition, speech and language.
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