ArticleHuman molecular genetics2017
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- RNA Polymerase III subunit Polr3a is required for craniofacial cartilage and bone development in zebrafish.PLoS genetics · 2026Article
- RNA polymerase I subunit D activated by Yin Yang 1 transcription promote cell proliferation and angiogenesis of colorectal cancer cells.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2024Article
- Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.Molecular genetics & genomic medicine · 2024Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.Molecular and cellular biology · 2023Article
- Roles of ribosomal RNA in health and disease.Frontiers in RNA research · 2023Article
- A clinically-relevant residue of POLR1D is required for Drosophila development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Article
- A nuclear proteome localization screen reveals the exquisite specificity of Gpn2 in RNA polymerase biogenesis.Cell cycle (Georgetown, Tex.) · 2021Article
- Structure of human RNA polymerase III.Nature communications · 2020Article
- A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- DNA binding preferences of S. cerevisiae RNA polymerase I Core Factor reveal a preference for the GC-minor groove and a conserved binding mechanism.Biochimica et biophysica acta. Gene regulatory mechanisms · 2019Article
- Does functional specialization of ribosomes really exist?RNA (New York, N.Y.) · 2019Review
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.Science progressReview
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malformation of the facial bones. Mutations in three genes (TCOF1, POLR1C and POLR1D) involved in RNA polymerase I (Pol I) transcription account for more than 90% of disease cases. Two of these TCS-associated genes, POLR1C and POLR1D, encode for essential Pol I/III subunits that form a heterodimer necessary for Pol I/III assembly, and many TCS mutations lie along their evolutionarily conserved dimerization interface. Here we elucidate the molecular basis of TCS mutations in Saccharomyces cerevisiae, and present a new model for how TCS mutations may disrupt Pol I and III complex integrity.
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