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. 1996 Sep;144(1):307–316. doi: 10.1093/genetics/144.1.307

Studies of the Inheritance of Human Ribosomal DNA Variants Detected in Two-Dimensional Separations of Genomic Restriction Fragments

R Kuick 1, J I Asakawa 1, J V Neel 1, M Kodaira 1, C Satoh 1, D Thoraval 1, I L Gonzalez 1, S M Hanash 1
PMCID: PMC1207503  PMID: 8878694

Abstract

We have investigated the variation in human ribosomal DNA repeat units as revealed in two-dimensional electrophoretic separations of genomic restriction fragments that were end-labeled at NotI cleavage sites. The transcribed portion of the ribosomal DNA results in ~20 labeled fragments visible on each gel as multicopy spots. We have mapped these spots to the sequences responsible for their appearance on the gels, based on their migration positions and direct sequencing of spots, and describe several previously unreported sources of variation. By studying mother/father/child families we gained information on how much of the between-repeats variation is due to differences between and within repeat arrays on homologous chromosomes. Two instances in which a child exhibited more copies of a particular fragment than were present in the parents are described and hypothesized to be due to events such as multiple unequal sister-chromatid exchanges or gene conversions.

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Selected References

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  1. Arnheim N., Krystal M., Schmickel R., Wilson G., Ryder O., Zimmer E. Molecular evidence for genetic exchanges among ribosomal genes on nonhomologous chromosomes in man and apes. Proc Natl Acad Sci U S A. 1980 Dec;77(12):7323–7327. doi: 10.1073/pnas.77.12.7323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Asakawa J., Kuick R., Neel J. V., Kodaira M., Satoh C., Hanash S. M. Quantitative and qualitative genetic variation in two-dimensional DNA gels of human lymphocytoid cell lines. Electrophoresis. 1995 Feb;16(2):241–252. doi: 10.1002/elps.1150160140. [DOI] [PubMed] [Google Scholar]
  3. Brown D. D., Wensink P. C., Jordan E. A comparison of the ribosomal DNA's of Xenopus laevis and Xenopus mulleri: the evolution of tandem genes. J Mol Biol. 1972 Jan 14;63(1):57–73. doi: 10.1016/0022-2836(72)90521-9. [DOI] [PubMed] [Google Scholar]
  4. Dover G. Molecular drive: a cohesive mode of species evolution. Nature. 1982 Sep 9;299(5879):111–117. doi: 10.1038/299111a0. [DOI] [PubMed] [Google Scholar]
  5. Erickson J. M., Schmickel R. D. A molecular basis for discrete size variation in human ribosomal DNA. Am J Hum Genet. 1985 Mar;37(2):311–325. [PMC free article] [PubMed] [Google Scholar]
  6. Financsek I., Mizumoto K., Mishima Y., Muramatsu M. Human ribosomal RNA gene: nucleotide sequence of the transcription initiation region and comparison of three mammalian genes. Proc Natl Acad Sci U S A. 1982 May;79(10):3092–3096. doi: 10.1073/pnas.79.10.3092. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Hayashizaki Y., Hirotsune S., Okazaki Y., Shibata H., Akasako A., Muramatsu M., Kawai J., Hirasawa T., Watanabe S., Shiroishi T. A genetic linkage map of the mouse using restriction landmark genomic scanning (RLGS). Genetics. 1994 Dec;138(4):1207–1238. doi: 10.1093/genetics/138.4.1207. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Henderson A. S., Warburton D., Atwood K. C. Location of ribosomal DNA in the human chromosome complement. Proc Natl Acad Sci U S A. 1972 Nov;69(11):3394–3398. doi: 10.1073/pnas.69.11.3394. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Krystal M., Arnheim N. Length heterogeneity in a region of the human ribosomal gene spacer is not accompanied by extensive population polymorphism. J Mol Biol. 1978 Nov 25;126(1):91–104. doi: 10.1016/0022-2836(78)90281-4. [DOI] [PubMed] [Google Scholar]
  10. Kuick R., Asakawa J., Neel J. V., Satoh C., Hanash S. M. High yield of restriction fragment length polymorphisms in two-dimensional separations of human genomic DNA. Genomics. 1995 Jan 20;25(2):345–353. doi: 10.1016/0888-7543(95)80032-h. [DOI] [PubMed] [Google Scholar]
  11. La Volpe A., Simeone A., D'Esposito M., Scotto L., Fidanza V., de Falco A., Boncinelli E. Molecular analysis of the heterogeneity region of the human ribosomal spacer. J Mol Biol. 1985 May 25;183(2):213–223. doi: 10.1016/0022-2836(85)90214-1. [DOI] [PubMed] [Google Scholar]
  12. Leffers H., Andersen A. H. The sequence of 28S ribosomal RNA varies within and between human cell lines. Nucleic Acids Res. 1993 Mar 25;21(6):1449–1455. doi: 10.1093/nar/21.6.1449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Nagai H., Ponglikitmongkol M., Mita E., Ohmachi Y., Yoshikawa H., Saeki R., Yumoto Y., Nakanishi T., Matsubara K. Aberration of genomic DNA in association with human hepatocellular carcinomas detected by 2-dimensional gel analysis. Cancer Res. 1994 Mar 15;54(6):1545–1550. [PubMed] [Google Scholar]
  14. Schmickel R. D., Gonzalez I. L., Erickson J. M. Nucleolus organizing genes on chromosome 21: recombination and nondisjunction. Ann N Y Acad Sci. 1985;450:121–131. doi: 10.1111/j.1749-6632.1985.tb21488.x. [DOI] [PubMed] [Google Scholar]
  15. Smith G. P. Evolution of repeated DNA sequences by unequal crossover. Science. 1976 Feb 13;191(4227):528–535. doi: 10.1126/science.1251186. [DOI] [PubMed] [Google Scholar]
  16. Vogel F., Rathenberg R. Spontaneous mutation in man. Adv Hum Genet. 1975;5:223–318. doi: 10.1007/978-1-4615-9068-2_4. [DOI] [PubMed] [Google Scholar]
  17. Wellauer P. K., Dawid I. B. Secondary structure maps of RNA: processing of HeLa ribosomal RNA. Proc Natl Acad Sci U S A. 1973 Oct;70(10):2827–2831. doi: 10.1073/pnas.70.10.2827. [DOI] [PMC free article] [PubMed] [Google Scholar]

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