Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease

Jeannine Diesch, Ross D. Hannan, Elaine Sanij*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

41 Citations (Scopus)

Abstract

Ribosomal RNA (rRNA) gene (rDNA) transcription by RNA Polymerase I (Pol I) drives cell growth and underlies nucleolar structure and function, indirectly coordinating many fundamental cellular processes. The importance of keeping rDNA transcription under tight control is reflected by the fact that deranged Pol I transcription is a feature of cancer and other human disorders. In this review, we discuss multiple aspects of rDNA function including the relationship between Pol I transcription and proliferative capacity, the role of Pol I transcription in mediating nucleolar structure and integrity, and rDNA/nucleolar interactions with the genome and their influence on heterochromatin and global genome stability. Furthermore, we discuss how perturbations in the structure of the rDNA loci might contribute to human disease, in some cases independent of effects on ribosome biogenesis.

Original languageEnglish
Article number43
JournalCell and Bioscience
Volume4
Issue number1
DOIs
Publication statusPublished - 27 Jul 2014
Externally publishedYes

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