Entry - *180450 - RIBOSOMAL RNA 1; RNR1 - OMIM

 
 
* 180450

RIBOSOMAL RNA 1; RNR1


HGNC Approved Gene Symbol: RNR1

Cytogenetic location: 13p12     Genomic coordinates (GRCh38): 13:4,600,001-10,100,000


▼ TEXT

By in situ annealing methods, it is possible to demonstrate that DNA coding for ribosomal RNA is present in region p12 on each of the satellited chromosomes, nos. 13, 14, 15, 21 and 22. Since the 5.8S RNA genes are a part of the rDNA repeating unit, they were expected to occupy the same chromosomal sites as 18S and 28S genes. Henderson et al. (1979) showed this to be the case. Cory and Adams (1977) proposed what the arrangement of genes is in this DNA complex. The ribosomal genes occur in 150 to 300 copies in the human genome. At the ribosomal RNA gene promoter, transcription initiation by RNA polymerase I allows synthesis of the 45S rRNA precursor molecule, which serves as the molecular precursor for the 18S, 5.8S and 28S ribosomal RNA components. The number of genes on a given acrocentric chromosome varies in the population and, in the individual, the number of genes on different acrocentrics is variable. The genes on nonhomologous chromosomes are far more similar to one another than would be expected if, following an ancestral duplication event, the genes on separate chromosomes had evolved independently. Three polymorphisms in human rDNA have been revealed by restriction enzyme analysis of human genomic DNA (e.g., see Schmickel et al., 1980). Studying mouse-human hybrid cells, Krystal et al. (1981) obtained results consistent with a generally uniform distribution of the polymorphisms over the 5 pairs of acrocentric chromosomes. Different nucleolar organizers can contain the same variant, suggesting the occurrence of genetic exchanges among ribosomal gene clusters on nonhomologous chromosomes. (According to the recommendations of HGM9, the rRNA genes on 13, 14, 15, 21, and 22 are symbolized RNR1, RNR2 (180451), RNR3 (180452), RNR4 (180453), and RNR5 (180454), respectively; each has an 18S and a 28S subclass, symbolized A and B, respectively. Thus, RNR4B symbolizes the genes for the 28S class of rRNA on chromosome 21.) Worton et al. (1988) presented evidence supporting a model of concerted evolution of ribosomal RNA genes by interchromosomal recombination.

Huschenbett et al. (1995) described the localization of human rRNA gene copies in YAC116, the YAC contig that encompasses the spinal muscular atrophy (SMA; 253300) candidate gene. The rRNA genes are typically organized as multiple copies of tandem repeat clusters in a head-to-tail fashion. Each rDNA repeat unit contains a 13-kb transcribed portion and an approximately 31-kb nontranscribed spacer. The 45S pre-rRNA transcript from the 13-kb transcriptional unit serves as a common precursor for the 18S, 5.8S, and 28S rRNA molecules. In the human, there are between 150 and 300 ribosomal gene copies per haploid genome. Huschenbett et al. (1995) mapped multiple copies of the rRNA gene within YAC contigs in the SMA region by pulsed field blot hybridization. Huschenbett et al. (1995) noted that, until their report, the rRNA gene clusters in human had been mapped to the short arms of the acrocentric chromosomes 13, 14, 15, 21, and 22.


▼ REFERENCES

  1. Cory, S., Adams, J. M. A very large repeating unit of mouse DNA containing the 18S, 28S and 5.8S rRNA genes. Cell 11: 795-805, 1977. [PubMed: 560915, related citations] [Full Text]

  2. Erickson, J. M., Schmickel, R. D. A molecular basis for discrete size variation in human ribosomal DNA. Am. J. Hum. Genet. 37: 311-325, 1985. [PubMed: 2984926, related citations]

  3. Evans, H. J., Buckland, R. A., Pardue, M. L. Location of the genes coding for 18S and 28S ribosomal RNA in the human genome. Chromosoma 48: 405-426, 1974.

  4. 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. Nat. Acad. Sci. 79: 3092-3096, 1982. [PubMed: 6954460, related citations] [Full Text]

  5. Gonzalez, I. L., Gorski, J. L., Campen, T. J., Dorney, D. J., Erickson, J. M., Sylvester, J. E., Schmickel, R. D. Variation among human 28S ribosomal RNA genes. Proc. Nat. Acad. Sci. 82: 7666-7670, 1985. [PubMed: 3865188, related citations] [Full Text]

  6. Henderson, A. S., Warburton, D., Atwood, K. C. Localization of ribosomal DNA in the human chromosome complement. Proc. Nat. Acad. Sci. 69: 3394-3398, 1972. [PubMed: 4508329, related citations] [Full Text]

  7. Henderson, A. S., Yu, M. T., Milcarek, C. On the chromosomal location of 5.8S DNA in people and mice. Cytogenet. Cell Genet. 23: 201-207, 1979. [PubMed: 436451, related citations] [Full Text]

  8. Huschenbett, J., Gasch, A., Katzer, A., Affeldt, M., Speer, A. Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene. Hum. Genet. 96: 335-338, 1995. [PubMed: 7649552, related citations] [Full Text]

  9. Krystal, M., D'Eustachio, P., Ruddle, F. H., Arnheim, N. Human nucleolus organizers on nonhomologous chromosomes can share the same ribosomal gene variants. Proc. Nat. Acad. Sci. 78: 5744-5748, 1981. [PubMed: 6272316, related citations] [Full Text]

  10. Naylor, S. L., Sakaguchi, A. Y., Schmickel, R. D., Gutai, M. W., Shows, T. B. Homogeneous arrangement of rDNA variants on individual acrocentric chromosomes in somatic cell hybrids. (Abstract) Am. J. Hum. Genet. 33: 112A only, 1981.

  11. Schmickel, R. D., Knoller, M. Characterization and localization of the human genes for ribosomal ribonucleic acid. Pediat. Res. 11: 929-935, 1977. [PubMed: 329205, related citations] [Full Text]

  12. Schmickel, R. D., Waterson, J. R., Knoller, M., Szura, L. L., Wilson, G. N. HeLa cell identification by analysis of ribosomal DNA segment patterns generated by endonuclease restriction. Am. J. Hum. Genet. 32: 890-897, 1980. [PubMed: 6255797, related citations]

  13. Warburton, D., Atwood, K. C., Henderson, A. C. Variation in the number of genes for rRNA among human acrocentric chromosomes: correlation with frequency of satellite association. Cytogenet. Cell Genet. 17: 221-230, 1976. [PubMed: 1001029, related citations] [Full Text]

  14. Worton, R. G., Sutherland, J., Sylvester, J. E., Willard, H. F., Bodrug, S., Dube, I., Duff, C., Kean, V., Ray, P. N., Schmickel, R. D. Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5-prime end. Science 239: 64-68, 1988. [PubMed: 3336775, related citations] [Full Text]

  15. Young, B. D., Hell, A., Birnie, G. D. A new estimate of human ribosomal gene number. Biochim. Biophys. Acta 454: 539-548, 1976. [PubMed: 63294, related citations] [Full Text]

  16. Zakharov, A. F., Davudov, A. Z., Benjush, V. A., Egolina, N. A. Polymorphisms of Ag-stained nucleolar organizer regions in man. Hum. Genet. 60: 334-339, 1982. [PubMed: 7201973, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
carol : 02/22/2022
ckniffin : 11/02/2005
carol : 8/3/1998
carol : 6/20/1997
mark : 9/17/1995
supermim : 3/16/1992
carol : 3/2/1992
supermim : 3/20/1990
carol : 12/21/1989
ddp : 10/27/1989

* 180450

RIBOSOMAL RNA 1; RNR1


HGNC Approved Gene Symbol: RNR1

Cytogenetic location: 13p12     Genomic coordinates (GRCh38): 13:4,600,001-10,100,000


TEXT

By in situ annealing methods, it is possible to demonstrate that DNA coding for ribosomal RNA is present in region p12 on each of the satellited chromosomes, nos. 13, 14, 15, 21 and 22. Since the 5.8S RNA genes are a part of the rDNA repeating unit, they were expected to occupy the same chromosomal sites as 18S and 28S genes. Henderson et al. (1979) showed this to be the case. Cory and Adams (1977) proposed what the arrangement of genes is in this DNA complex. The ribosomal genes occur in 150 to 300 copies in the human genome. At the ribosomal RNA gene promoter, transcription initiation by RNA polymerase I allows synthesis of the 45S rRNA precursor molecule, which serves as the molecular precursor for the 18S, 5.8S and 28S ribosomal RNA components. The number of genes on a given acrocentric chromosome varies in the population and, in the individual, the number of genes on different acrocentrics is variable. The genes on nonhomologous chromosomes are far more similar to one another than would be expected if, following an ancestral duplication event, the genes on separate chromosomes had evolved independently. Three polymorphisms in human rDNA have been revealed by restriction enzyme analysis of human genomic DNA (e.g., see Schmickel et al., 1980). Studying mouse-human hybrid cells, Krystal et al. (1981) obtained results consistent with a generally uniform distribution of the polymorphisms over the 5 pairs of acrocentric chromosomes. Different nucleolar organizers can contain the same variant, suggesting the occurrence of genetic exchanges among ribosomal gene clusters on nonhomologous chromosomes. (According to the recommendations of HGM9, the rRNA genes on 13, 14, 15, 21, and 22 are symbolized RNR1, RNR2 (180451), RNR3 (180452), RNR4 (180453), and RNR5 (180454), respectively; each has an 18S and a 28S subclass, symbolized A and B, respectively. Thus, RNR4B symbolizes the genes for the 28S class of rRNA on chromosome 21.) Worton et al. (1988) presented evidence supporting a model of concerted evolution of ribosomal RNA genes by interchromosomal recombination.

Huschenbett et al. (1995) described the localization of human rRNA gene copies in YAC116, the YAC contig that encompasses the spinal muscular atrophy (SMA; 253300) candidate gene. The rRNA genes are typically organized as multiple copies of tandem repeat clusters in a head-to-tail fashion. Each rDNA repeat unit contains a 13-kb transcribed portion and an approximately 31-kb nontranscribed spacer. The 45S pre-rRNA transcript from the 13-kb transcriptional unit serves as a common precursor for the 18S, 5.8S, and 28S rRNA molecules. In the human, there are between 150 and 300 ribosomal gene copies per haploid genome. Huschenbett et al. (1995) mapped multiple copies of the rRNA gene within YAC contigs in the SMA region by pulsed field blot hybridization. Huschenbett et al. (1995) noted that, until their report, the rRNA gene clusters in human had been mapped to the short arms of the acrocentric chromosomes 13, 14, 15, 21, and 22.


See Also:

Erickson and Schmickel (1985); Evans et al. (1974); Financsek et al. (1982); Gonzalez et al. (1985); Henderson et al. (1972); Naylor et al. (1981); Schmickel and Knoller (1977); Warburton et al. (1976); Young et al. (1976); Zakharov et al. (1982)

REFERENCES

  1. Cory, S., Adams, J. M. A very large repeating unit of mouse DNA containing the 18S, 28S and 5.8S rRNA genes. Cell 11: 795-805, 1977. [PubMed: 560915] [Full Text: https://doi.org/10.1016/0092-8674(77)90292-6]

  2. Erickson, J. M., Schmickel, R. D. A molecular basis for discrete size variation in human ribosomal DNA. Am. J. Hum. Genet. 37: 311-325, 1985. [PubMed: 2984926]

  3. Evans, H. J., Buckland, R. A., Pardue, M. L. Location of the genes coding for 18S and 28S ribosomal RNA in the human genome. Chromosoma 48: 405-426, 1974.

  4. 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. Nat. Acad. Sci. 79: 3092-3096, 1982. [PubMed: 6954460] [Full Text: https://doi.org/10.1073/pnas.79.10.3092]

  5. Gonzalez, I. L., Gorski, J. L., Campen, T. J., Dorney, D. J., Erickson, J. M., Sylvester, J. E., Schmickel, R. D. Variation among human 28S ribosomal RNA genes. Proc. Nat. Acad. Sci. 82: 7666-7670, 1985. [PubMed: 3865188] [Full Text: https://doi.org/10.1073/pnas.82.22.7666]

  6. Henderson, A. S., Warburton, D., Atwood, K. C. Localization of ribosomal DNA in the human chromosome complement. Proc. Nat. Acad. Sci. 69: 3394-3398, 1972. [PubMed: 4508329] [Full Text: https://doi.org/10.1073/pnas.69.11.3394]

  7. Henderson, A. S., Yu, M. T., Milcarek, C. On the chromosomal location of 5.8S DNA in people and mice. Cytogenet. Cell Genet. 23: 201-207, 1979. [PubMed: 436451] [Full Text: https://doi.org/10.1159/000131326]

  8. Huschenbett, J., Gasch, A., Katzer, A., Affeldt, M., Speer, A. Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene. Hum. Genet. 96: 335-338, 1995. [PubMed: 7649552] [Full Text: https://doi.org/10.1007/BF00210418]

  9. Krystal, M., D'Eustachio, P., Ruddle, F. H., Arnheim, N. Human nucleolus organizers on nonhomologous chromosomes can share the same ribosomal gene variants. Proc. Nat. Acad. Sci. 78: 5744-5748, 1981. [PubMed: 6272316] [Full Text: https://doi.org/10.1073/pnas.78.9.5744]

  10. Naylor, S. L., Sakaguchi, A. Y., Schmickel, R. D., Gutai, M. W., Shows, T. B. Homogeneous arrangement of rDNA variants on individual acrocentric chromosomes in somatic cell hybrids. (Abstract) Am. J. Hum. Genet. 33: 112A only, 1981.

  11. Schmickel, R. D., Knoller, M. Characterization and localization of the human genes for ribosomal ribonucleic acid. Pediat. Res. 11: 929-935, 1977. [PubMed: 329205] [Full Text: https://doi.org/10.1203/00006450-197708000-00015]

  12. Schmickel, R. D., Waterson, J. R., Knoller, M., Szura, L. L., Wilson, G. N. HeLa cell identification by analysis of ribosomal DNA segment patterns generated by endonuclease restriction. Am. J. Hum. Genet. 32: 890-897, 1980. [PubMed: 6255797]

  13. Warburton, D., Atwood, K. C., Henderson, A. C. Variation in the number of genes for rRNA among human acrocentric chromosomes: correlation with frequency of satellite association. Cytogenet. Cell Genet. 17: 221-230, 1976. [PubMed: 1001029] [Full Text: https://doi.org/10.1159/000130715]

  14. Worton, R. G., Sutherland, J., Sylvester, J. E., Willard, H. F., Bodrug, S., Dube, I., Duff, C., Kean, V., Ray, P. N., Schmickel, R. D. Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5-prime end. Science 239: 64-68, 1988. [PubMed: 3336775] [Full Text: https://doi.org/10.1126/science.3336775]

  15. Young, B. D., Hell, A., Birnie, G. D. A new estimate of human ribosomal gene number. Biochim. Biophys. Acta 454: 539-548, 1976. [PubMed: 63294] [Full Text: https://doi.org/10.1016/0005-2787(76)90279-3]

  16. Zakharov, A. F., Davudov, A. Z., Benjush, V. A., Egolina, N. A. Polymorphisms of Ag-stained nucleolar organizer regions in man. Hum. Genet. 60: 334-339, 1982. [PubMed: 7201973] [Full Text: https://doi.org/10.1007/BF00569214]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
carol : 02/22/2022
ckniffin : 11/02/2005
carol : 8/3/1998
carol : 6/20/1997
mark : 9/17/1995
supermim : 3/16/1992
carol : 3/2/1992
supermim : 3/20/1990
carol : 12/21/1989
ddp : 10/27/1989



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 24, 2024