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Letter

Genomic architecture and inheritance of human ribosomal RNA gene clusters

¹ Graduate Center for Toxicology, University of Kentucky, Lexington, Kentucky 40515, USA; ² Department of Microbiology, Immunology and Molecular Genetics, University of Kentucky, Lexington, Kentucky 40515, USA; ³ Department of Internal Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky 40515, USA; ⁴ Department of Microbiology, Immunology and Molecular Genetics, Markey Cancer Center, University of Kentucky, Lexington, Kentucky 40515, USA

The finishing of the Human Genome Project largely completed the detailing of human euchromatic sequences; however, the most highly repetitive regions of the genome still could not be assembled. The 12 gene clusters producing the structural RNA components of the ribosome are critically important for cellular viability, yet fall into this unassembled region of the Human Genome Project. To determine the extent of human variation in ribosomal RNA gene content (rDNA) and patterns of rDNA cluster inheritance, we have determined the physical lengths of the rDNA clusters in peripheral blood white cells of healthy human volunteers. The cluster lengths exhibit striking variability between and within human individuals, ranging from 50 kb to >6 Mb, manifest essentially complete heterozygosity, and provide each person with their own unique rDNA electrophoretic karyotype. Analysis of these rDNA fingerprints in multigenerational human families demonstrates that the rDNA clusters are subject to meiotic rearrangement at a frequency >10% per cluster, per meiosis. With this high intrinsic recombinational instability, the rDNA clusters may serve as a unique paradigm of potential human genomic plasticity.

E-mail andrew.pierce{at}uky.edu; fax (859) 257-8940.

[Supplemental material is available online at www.genome.org.]

Article published online before print. Article and publication date are at http://www.genome.org/cgi/doi/10.1101/gr.6858507

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