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Fig. 3 | Journal of Biomedical Science

Fig. 3

From: Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism

Fig. 3

A sigmoidal curve illustrates the threshold effect. The phenotypic severity (Y-axis) is plotted with the level or activity of factor X (denoted [X]) in the X-axis. In a sigmoidal curve of such “dose–response” curve, when [X] is at its normal dosage (high), the system is at its normal (wildtype) state. When [X] is reduced due to a low level, e.g., due to a null mutation in X, the system exhibits the mutant phenotype with complete penetrance. At these two states, small perturbations in [X] do not cause any changes in the phenotypic output. However, at near the inflection point of the curve, small changes in [X] will cause large changes in the phenotypic outcome. Therefore, the system is ultrasensitive to changes in [X]

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