Extended Data Fig. 8: A model proposing how human genetic variation within TSCs induces RBC trait phenotypes. | Nature Genetics

Extended Data Fig. 8: A model proposing how human genetic variation within TSCs induces RBC trait phenotypes.

From: Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits

Extended Data Fig. 8

A combination of STFs and MTFs drives optimal gene expression via the TSC. The normal signal-induced expression of a red blood cell gene is perturbed due to a SNP that either eliminates an existing STF binding event or creates a new STF binding site in a critical signaling center. This can lead to a lack of response to an episodic signaling event, initiated by an exogenous stressor, and eventually manifest as phenotypic variability.

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