The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome.

ABSTRACT: The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by TCOF1 gene emerges as one of the most crucial regulators of cellular processes. TCOF1 was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations. Later studies revealed that treacle regulates ribosome biogenesis, mitosis, proliferation, DNA damage response, and apoptosis. Importantly,

SUBMITTER: Grzanka M 

PROVIDER: S-EPMC7957619 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature