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Science 1 January 1988:
Vol. 239. no. 4835, pp. 64 - 68
DOI: 10.1126/science.3336775
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Articles

Science, Vol 239, Issue 4835, 64-68
Copyright © 1988 by American Association for the Advancement of Science

articles

Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end

RG Worton, J Sutherland, JE Sylvester, HF Willard, S Bodrug, I Dube, C Duff, V Kean, PN Ray, and RD Schmickel

Genetics Department, Hospital for Sick Children, Toronto, Ontario, Canada.

The multiple copies of the human ribosomal RNA genes (rDNA) are arranged as tandem repeat clusters that map to the middle of the short arms of chromosomes 13, 14, 15, 21, and 22. Concerted evolution of the gene family is thought to be mediated by interchromosomal recombination between rDNA repeat units, but such events would also result in conservation of the sequences distal to the rDNA on these five pairs of chromosomes. To test this possibility, a DNA fragment spanning the junction between rDNA and distal flanking sequence has been cloned and characterized. Restriction maps, sequence data, and gene mapping studies demonstrate that (i) the rRNA genes are transcribed in a telomere-to-centromere direction, (ii) the 5' end of the cluster and the adjacent non-rDNA sequences are conserved on the five pairs of chromosomes, and (iii) the 5' end of the cluster is positioned about 3.7 kb upstream from the transcription initiation site of the first repeat unit. The data support a model of concerted evolution by interchromosomal recombination.


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