Evidence of the importance of the conversion of uridine to pseudouridine comes from a rare,fatal disease in which the enzyme that catalyzes the conversion is mutated.Symptoms of the disease are skin abnormalities,bone marrow failure and elevated susceptibility to cancer.The name of the disease is _________.
A)dysplasia
B)keratinosis
C)dyskeratosis
D)lupus erythematosus
E)dyspareunia

Question

Quizplus · Accepted Answer

The disease described in the question is dyskeratosis congenita, which is caused by mutations in genes involved in telomere biology and RNA processing, including the gene for the enzyme that catalyzes the conversion of uridine to pseudouridine. This disease is characterized by skin abnormalities, bone marrow failure, and an increased risk of cancer.

Evidence of the Importance of the Conversion of Uridine to Pseudouridine