Figure 1. Position-dependent effects of nonsense mutations of NMD correlate with inheritance pattern and clinical severity of disease.

Figure 1

Position-dependent effects of nonsense mutations of NMD correlate with inheritance pattern and clinical severity of disease. Human β-globin mRNAs that contain PTCs within their 5' portion are generally targeted by NMD, protecting heterozygotes from the disease β-thalassemia. In contrast, mRNAs that contain PTCs within their 3' portion are generally not targeted for NMD and, thus, are translated into truncated proteins that result in symptomatic, dominantly inherited β-thalassemia. Other conditions listed in Table 1 have similar characteristics. Reproduced from reference 1.

From: NMD and Human Disease

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