Summary
We studied the rDNA spacer length polymorphism in a sample of 121 individuals belonging to families of 2–3 generations. Our data, obtained by restriction pattern analysis of genomic DNA, confirmed the limited and discrete nature of this polymorphism. Using the pattern as a genetic marker, we analyzed the segregation of length variants in the different families and we investigated the possible occurrence of unequal crossing-over events among homologous and nonhomologous rDNA clusters. No direct evidence of recombination in the spacer region that we analyzed emeged from our study. All the differences in the restriction patterns observed among individuals from the same family could be explained as resulting from meiotic segregation. Family data showed a multichromosomal distribution of NTS length variants and demonstrated a direct correspondence between the frequency of a variant in the population and its degree of spreading on the different rDNA clusters.
Similar content being viewed by others
References
Arnheim N, Krystal M, Schmickel R, Wilson G, Ryder O, Zimmer E (1980) Molecular evidence for genetic exchanges among ribosomal genes on nonhomologous chromosomes in man and apes. Proc Natl Acad Sci USA 12:7323–7327
Dover G (1982) Molecular drive: a cohesive mode of species evolution. Nature 299:111–117
Erickson JM, Rushord CJ, Dorney DJ, Wilson GN, Schmickel RD (1981) Structure and variation of human ribosomal DNA: molecular analysis of cloned fragments. Gene 16:1–9
Fedoroff NV (1979) On spacers. Cell 16:697–710
Hederson AS, Warburton D, Atwood KC (1972) Location of ribosomal DNA in the human chromosome complement. Poc Natl Acad Sci USA 69:3394–3398
Kaufman RE, Kretschmer PJ, Adams JW, Coon HC, Anderson WF, Nienhuis AW (1980) Cloning and characterization of DNA sequences surrounding the human γ-, δ-, and β-globin genes. Proc Natl Acad Sci USA 77:4229–4233
Krystal M, Arnheim N (1978) Length heterogeneity in a region of the human ribosomal gene spacer is not accompanied by extensive population polymorphism. J Mol Biol 126:91–104
Krystal M, D'Eustachio P, Ruddle FH, Arnheim N (1981) Human nucleolus organizers on nonhomologous schromosomes can share the same ribosomal gene variants. Proc Natl Acad Sci USA 78:5744–5748
Mirre C, Hartung M, Stahl A (1980) Association of ribosomal genes in the fibrillar center of the nucleolus: factor influencing translocation and nondisjunction in human meiotic oocyte. Proc Natl Acad Sci USA 77:6017–6021
Rigby PW, Dickmann M, Rhodes C, Berg P (1977) Labeling DNA to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113:237–251
Schmickel RD (1973) Quantitation of human ribosomal DNA: hybridization of human DNA with ribosomal RNA for quantitation and fractionation. Pediat Res 7:5–12
Smith GP (1973) Unequal crossover and the evolution of multigene families. Cold Spring Harbor Symp Quant Biol 38:507–513
Treco D, Brownell E, Arnheim N (1982) In: The cell nucleus, Vol XII, Busch, H., Rothbum, L., (eds), Academic Press, New York, pp 101–126
Wahl GM, Stern M, Stark GR (1979) Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethylpaper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci USA 76:3683–3687
Warburton D, Atwood KC, Henderson AS (1976) Variation in the number of genes for rDNA among human acrocentric chromosomes: correlation with frequency of satellite association. Cytogenet Cell Genet 17:221–230
Wellauer PK, Dawid IB (1973) Secondary structure maps of RNA: processing of HeLa ribosomal RNA. Proc Natl Acad Sci USA 70:2827–2831
Wellauer PK, Dawid IB (1979) Isolation and sequence organization of human ribosomal DNA. J Mol Biol 128:289–303
Wigler M, Sweet R, Sim GK, Wold B, Pellicer A, Lacy E, Maniatis T, Silverstein S, Axel R (1979) Transformation of mammalian cells with genes from procaryotes and eucaryotes. Cell 16:777–785
Author information
Authors and Affiliations
Additional information
Communicated by W. Gehring
Rights and permissions
About this article
Cite this article
Ranzani, G.N., Bernini, L.F. & Crippa, M. Inheritance of rDNA spacer length variants in man. Mol Gen Genet 196, 141–145 (1984). https://doi.org/10.1007/BF00334106
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00334106