Question

What is/are the phenotypes when guanylyltransferase in 5' CAP is mutated at the molecular level? What process is interfered?

Answer 1

The 5′ cap protects the nascent mRNA from degradation and assists in ribosome binding during translation. Splicing is dependent on the presence of the 7-methylguanosine cap. A defect in splicing can occur as a result of mutation(s) in the guanylytransferase, which can inhibit enzyme activity, preventing the formation of the cap. However the severity of the effect is dependent on the guanlyltransferase mutation. The post tramnscriptional modification is disturbed. the phenotype is affected.

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