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Essential and fundamental to all organisms, transcription is the process for RNA synthesis from template DNA. At the heart of this activity is the large multisubunit enzyme called RNA polymerase. RNA polymerase, abbreviated RNAP and officially known as DNA-directed RNA polymerase, is found in all living organisms as well as many viruses. Present in bacteria, archaea, and even eukaryotes, these RNAPs all share similar protein core structures as well as mechanisms.

Though mutations in eukaryotic RNAP have not been solely implicated in disease, dysregulation of ribosomal RNA synthesis via RNAP I has lead to a variety of different diseases. The most well-recognized diseases result from a loss of function mutations in ribosomes or factors associated with Pol I.[28] These diseases are known as ribosomopathies and include Diamond-Blackfan anemia, 5q minus syndrome, Treacher Collins syndrome, and Blooms and Werner syndrome.[28] There are also other ribosomopathies which are associated with mutations affecting RNA processing and modification; these diseases include Shwachman-Diamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, North American Indian childhood cirrhosis, Bowen-Conradi syndrome, and alopecia, neurological defect and endocrinopathy (ANE) syndrome. Unfortunately, ribosomopathies are rare, and treatment is typically palliative rather than curative.[28]