Fig. 1: Active enhancers in human embryonic tissue associated with facial individuality. | Nature Communications

Fig. 1: Active enhancers in human embryonic tissue associated with facial individuality.

From: The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

Fig. 1

A Experimental layout: embryonic human facial mesenchyme was collected and CAGE-sequenced to identify transcribed enhancers, which were subsequently compared to SNPs associated with facial morphology within the normal range as indicated by genome-wide association sequencing (GWAS). B Distribution of the genes located proximally to the enhancers identified in relationship to the GWAS probability. Genes related to the PI3K/AKT/mTORC1/autophagy pathway are highlighted in red. C Illustration of the PI3K/AKT/mTORC1/autophagy pathway (based on refs. 29 and 17 and the Autophagy database http://www.tanpaku.org/autophagy/) highlighting the genes identified. D Protein interaction network generated by the STRING database for the genes related to the development of individual facial features. The six genes indicated in B are highlighted in red. The thickness of the connecting lines reflects the strength of interactions. E Distribution of the individual facial phenotypes revealed by GWAS to be associated with each of the six genes encoding components of the PI3K/AKT/mTORC1/autophagy pathway.

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