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

Jeannine Diesch, Ross D Hannan, Elaine Sanij

Research output: Contribution to journalArticleResearchpeer-review

32 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
Pages (from-to)1 - 11
Number of pages11
JournalCell & Bioscience
Volume4
Issue number1 (Art. No:43)
DOIs
Publication statusPublished - 2014

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