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. 2008 Jan;18(1):13-8.
doi: 10.1101/gr.6858507. Epub 2007 Nov 19.

Genomic architecture and inheritance of human ribosomal RNA gene clusters

Dawn M Stults  1 , Michael W Killen, Heather H Pierce, Andrew J Pierce
Affiliations

Genomic architecture and inheritance of human ribosomal RNA gene clusters

Dawn M Stults et al. Genome Res. 2008 Jan.

Abstract

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. VSports手机版.

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Figures

Figure 1.
Figure 1.
Experimental Strategy. Release of intact rDNA clusters from bulk genomic DNA. (Open rectangles) Individual rDNA repeat units; (double line) non-rDNA genomic DNA; (arrows) hypothetical restriction sites.
Figure 2.
Figure 2.
Normal human rDNA cluster length variability. Eighteen healthy anonymous human donors are shown. (A) 5S rDNA gene clusters. (B) 45S rDNA gene clusters. Cluster lengths are based on chromosome size standards from Schizosaccharomyces pombe, Hansenula wingei, and lambda phage concatemers.
Figure 3.
Figure 3.
(A) Genomic architecture and patterns of human inheritance of 5S ribosomal DNA gene clusters. Four families, “ARDO,” “PYFI,” “VAGR,” and “THAE” are shown. Relationship codes: (01) daughter, (02) son, (10) mother, (20) father, (40) maternal grandmother, (60) paternal grandmother, (70) paternal grandfather. Siblings of the same sex and generation are additionally designated “A,” “B,” in descending birth order. (Dotted oval) A band not represented in either parent. rDNA cluster lengths are measured in kilobases and calibrated using lambda phage concatemers. (B) PYFI family 5S rDNA structure at high resolution and contrast. Restriction enzymes used to liberate 5S gene clusters from bulk genomic DNA are shown above sets of family samples. (Dotted ovals) Bands not represented in either parent. (Square brackets) Bands of nonstoichiometric signal intensity. (Left) Lambda phage concatemer size references: λ3 = 145,506 bp, λ4 = 194,008 bp, λ5 = 242,510 bp.
Figure 4.
Figure 4.
(A) Genomic architecture and patterns of human inheritance of 45S ribosomal DNA gene clusters. Four families, “ARDO,” “PYFI,” “VAGR,” and “THAE” are shown. Relationship codes: (01) daughter, (02) son, (10) mother, (20) father, (40) maternal grandmother, (60) paternal grandmother, (70) paternal grandfather. Siblings of the same sex and generation are additionally designated “A,” “B” in descending birth order. (Dotted ovals) Bands not represented in either parent. (Square brackets) Bands of nonstoichiometric signal intensity. Cluster lengths are calibrated on chromosomal size standards from S. pombe, H. wingei, and S. cerevisiae and lambda phage concatemers. (B) High resolution. Note resolution of two bands at 600–700 kb in VAGR-02A with respect to the unresolved doublet in this size range in panel A.
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