Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease
| dc.contributor.author | Diesch, Jeannine | |
| dc.contributor.author | Hannan, Ross D | |
| dc.contributor.author | Sanij, Elaine | |
| dc.date.accessioned | 2016-01-29T04:50:51Z | |
| dc.date.available | 2016-01-29T04:50:51Z | |
| dc.date.issued | 2014-08-19 | |
| dc.description.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. | en_AU |
| dc.description.sponsorship | This work was supported by Grants from the National Health and Medical Research Council of Australia (NHMRC). RDH is supported by a NHMRC Fellowship. | en_AU |
| dc.identifier.issn | 2045-3701 | en_AU |
| dc.identifier.uri | http://hdl.handle.net/1885/96155 | |
| dc.publisher | BioMed Central | en_AU |
| dc.rights | © Diesch et al.; licensee BioMed Central Ltd. 2014 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. | en_AU |
| dc.source | Cell & Bioscience | en_AU |
| dc.subject | nucleoli | en_AU |
| dc.subject | rna polymerase i | en_AU |
| dc.subject | ubf | en_AU |
| dc.subject | rdna | en_AU |
| dc.title | Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease | en_AU |
| dc.type | Journal article | en_AU |
| local.bibliographicCitation.issue | 1 | en_AU |
| local.bibliographicCitation.startpage | 43 | en_AU |
| local.contributor.affiliation | Hannan, R., John Curtin School of Medical Research, The Australian National University | en_AU |
| local.contributor.authoruid | u1000203 | en_AU |
| local.identifier.citationvolume | 4 | en_AU |
| local.identifier.doi | 10.1186/2045-3701-4-43 | en_AU |
| local.identifier.essn | 2045-3701 | en_AU |
| local.publisher.url | http://www.biomedcentral.com/ | en_AU |
| local.type.status | Published Version | en_AU |