Article
A clinically-relevant residue of POLR1D is required for Drosophila development.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Nov 2022
Palumbo Ryan J, Belkevich Alana E, Pascual Haleigh G, Knutson Bruce A
Abstract excerpt
BACKGROUND: POLR1D is a subunit of RNA Polymerases I and III, which synthesize ribosomal RNAs. Dysregulation of these polymerases cause several types of diseases, including ribosomopathies. The craniofacial disorder Treacher Collins Syndrome (TCS) is a ribosomopathy caused by mutations in several subunits of RNA Polymerase I, including POLR1D. Here, we characterized the effect of a missense mutation in POLR1D and...
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