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Human rDNA Genes: Identification of Four Fractions, Their Functions and Nucleolar Location

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Proteins of the Nucleolus

Abstract

In this chapter we present new data, mostly ours, on the copy number of ribosomal genes (genes for rRNA that form multicopy tandem repeats termed rDNA) in individual human genomes, and their functional inequality. Four fractions of rDNA repeats are characterized in human peripheral blood lymphocytes: (1) active and (2) potentially active (‘poised’) copies, both characterized by an ‘open’ conformation of the transcribed region, and firmly bound to the nuclear matrix; (3) inactive, slightly methylated copies, and (4) inactive copies, intensively methylated in the transcribed region, which are in a ‘closed’ conformation. The rDNA repeats of fractions 3 and 4 are loosely bound to the matrix and can be easily extracted from the nucleus. Proteins tightly bound to the rDNA transcribed region were for the first time shown in the potentially active rDNA fraction. The function of these proteins may be the preservation of the ‘open’ state of the fraction of potentially active rRNA genes when they are not involved in transcription. We also present our results of the quantitation of genomic dosage of active and potentially active rRNA genes in individual human genomes. These data have revealed some phenotypic manifestations of genomic dosage of active/poised rRNA gene fractions in healthy growth, and its impact on pathogenesis of a number of heritable and nonheritable diseases. The potential application of measuring the genomic dosage of active/poised rRNA genes in practical medico-genetic consulting is discussed.

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Authors and Affiliations

  1. Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    Nataliya A. Lyapunova, Nataliya N. Veiko & Lev N. Porokhovnik

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  1. Nataliya A. Lyapunova
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  2. Nataliya N. Veiko
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  3. Lev N. Porokhovnik
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Correspondence to Lev N. Porokhovnik .

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  1. , Biology, University of Toronto at Mississauga, Mississauga Rd. N. 3359, Mississauga, L5L1C6, Ontario, Canada

    Danton H O'Day

  2. , Biology, University of Toronto at Mississauga, Mississauga Rd. 3359, Mississauga, L5L1C6, Ontario, Canada

    Andrew Catalano

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Lyapunova, N.A., Veiko, N.N., Porokhovnik, L.N. (2013). Human rDNA Genes: Identification of Four Fractions, Their Functions and Nucleolar Location. In: O'Day, D., Catalano, A. (eds) Proteins of the Nucleolus. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-5818-6_5

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