Human rRNA gene clusters are recombinational hotspots in cancer.

@article{Stults2009HumanRG,
  title={Human rRNA gene clusters are recombinational hotspots in cancer.},
  author={Dawn Michelle Stults and Michael W Killen and E. P. M. Williamson and Jon S. Hourigan and Hern{\'a}n Vargas and Susanne M. Arnold and Jeffrey A Moscow and Andrew J. Pierce},
  journal={Cancer research},
  year={2009},
  volume={69 23},
  pages={
          9096-104
        }
}
The gene that produces the precursor RNA transcript to the three largest structural rRNA molecules (rDNA) is present in multiple copies and organized into gene clusters. The 10 human rDNA clusters represent <0.5% of the diploid human genome but are critically important for cellular viability. Individual genes within rDNA clusters possess very high levels of sequence identity with respect to each other and are present in high local concentration, making them ideal substrates for genomic… 
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HUMAN RIBOSOMAL RNA GENE CLUSTERS ARE RECOMBINATIONAL HOTSPOTS IN CANCER
TLDR
This finding makes rDNA restructuring one of the most common chromosomal alterations in adult solid tumors, illustrates the dynamic plasticity of the human genome, and may have prognostic or predictive value in disease progression.
Human rDNA copy number is unstable in metastatic breast cancers
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It is found that rDNA and satellite DNA sequences had significant copy number variation – both losses and gains of copies – compared to healthy tissue, arguing that these genome rearrangements are common in developing breast cancer.
Human rDNA Copy Number Is Unstable in Metastatic Breast Cancers
TLDR
Using tumor tissues obtained from women with invasive ductal carcinoma, it is found that a sensitive area of the genome – the ribosomal DNA gene repeat cluster – shows hypervariability in copy number, concluding that copy number variation at repeat DNA is a general consequence of reduced heterochromatin function in cancer progression.
Ribosomal DNA copy number amplification and loss in human cancers is linked to tumor genetic context, nucleolus activity, and proliferation
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It is suggested that 5S rDNA amplification facilitates increased proliferation, nucleolar activity, and ribosomal synthesis in cancer, whereas 45S r DNA loss emerges as a byproduct of transcription-replication conflict in rapidly replicating tumor cells.
Ribosomal DNA copy number loss and sequence variation in cancer
Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs…
Genetic context and proliferation determine contrasting patterns of copy number amplification and loss for 5S and 45S ribosomal DNA arrays in cancer
TLDR
It is shown that most cancers undergo coupled 5S rDNA array amplification and 45S r DNA loss, with abundant inter-individual variation in rDNA copy number of both arrays, and concerted modulation of 5S-45S copy number in some but not all tissues.
Integrative rDNAomics—Importance of the Oldest Repetitive Fraction of the Eukaryote Genome
TLDR
This work addresses nuclear rDNAs in an integrative approach to better assess the complexity of rDNA importance in the evolutionary context and addresses the precursor 45S rDNA in a compositional and evolutionary dynamics viewpoint.
Visualization of the dynamic behavior of ribosomal RNA gene repeats in living yeast cells
TLDR
Yeast strains in which every rDNA repeat unit has lacO or tetO arrays that associate with LacI‐GFP or TetR‐mRFP proteins, respectively, showed that the rDNA actively moved and changed shape at the boundary between the nucleolus and the nucleoplasm.
Age-Dependent Ribosomal DNA Variations in Mice
TLDR
The findings suggest that rDNA is also fragile in mammalian cells and that alterations within this region have a profound effect on cellular function.
Ribosomal DNA instability and genome adaptability
TLDR
Evidence uncovering mechanisms of regulation of instability and copy number variation at the rDNA and their role in adaptation to the environment is reviewed, which could serve to understand the basic principles governing the behavior of other tandem repeats and their roles in shaping the genome.
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