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Article

Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.

Human molecular genetics - 1 Nov 2017

Walker-Kopp Nancy, Jackobel Ashleigh J, Pannafino Gianno N, Morocho Paola A, Xu Xia, Knutson Bruce A

Abstract excerpt

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...

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Identifiers

PMID: 28973381
DOI: 10.1093/hmg/ddx317
PMCID: PMC6251613

Genes

TCOF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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