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. Author manuscript; available in PMC: 2021 Feb 11.
Published in final edited form as: Nat Genet. 2020 Nov 23;52(12):1333–1345. doi: 10.1038/s41588-020-00738-2

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

Extended Data Fig. 8:

A combination of STFs with MTF drives optimal gene expression-regulation by 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 pathway, initiated by an exogenous stressor, and eventually lead to phenotypic variability.