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

Jeannine Diesch; Ross D. Hannan; Elaine Sanij

doi:10.1186/2045-3701-4-43

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 journal › Review article › peer-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 language	English
Article number	43
Journal	Cell and Bioscience
Volume	4
Issue number	1
DOIs	https://doi.org/10.1186/2045-3701-4-43
Publication status	Published - 27 Jul 2014
Externally published	Yes

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title = "Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease",

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.",

keywords = "Nucleoli, RNA Polymerase I, UBF, rDNA",

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T1 - Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease

AU - Diesch, Jeannine

AU - Hannan, Ross D.

AU - Sanij, Elaine

PY - 2014/7/27

Y1 - 2014/7/27

N2 - 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.

AB - 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.

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U2 - 10.1186/2045-3701-4-43

DO - 10.1186/2045-3701-4-43

M3 - Review article

SN - 2045-3701

VL - 4

JO - Cell and Bioscience

JF - Cell and Bioscience

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ER -

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

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