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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Functional characterization of two enhancers located downstream FOXP2

Fig. 1

Identification of enhancer regions downstream FOXP2 and upstream MDFIC. a. Genomic location of human FOXP2 and MDFIC genes (GRCh38/hg38). The red asterisk shows the intergenic position of the 7q31.1 breakpoint in the proband harbouring a genomic complex rearrangement of intact FOXP2 and with severe expressive and receptive speech and language impairment. b. Detailed view of an ENCODE UCSC genome-browser snapshot showing bar graphs with a detailed representation of the locations of H3K4Me1 and H3K27Ac histone marks and DNA clusters in human cell lines. The squared regions in red show the locations of FOXP2-Eproximal and FOXP2-Edistal. The red asterisk shows the position of the 7q breakpoint in the proband harbouring a genomic complex rearrangement and with severe expressive and receptive speech and language impairment. The transcription factor track shows transcription factor binding sites obtained from a collection of ChIP-seq experiments. A grey horizontal box (32 for FOXP2-E proximal and 25 for FOXP2-Edistal) encloses each transcription factor cluster, with the darkness of the box being proportional to the maximum signal strength. The transcription factor name is shown to the left of each box. As seen in the figure the majority of transcription factors bind to both enhancers. c. Schematic representation of the location of the four sgRNA pairs flanking the 6.2 kb region including FOXP2-Eproximal and the 2.3 kb region including FOXP2-Edistal. sgRNAs with the highest cleavage efficiencies are labelled in red

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