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Human 28S ribosomal RNA sequence heterogeneity.

I L Gonzalez1, J E Sylvester, R D Schmickel

  • 1Department of Human Genetics, University of Pennsylvania, Philadelphia 19104.

Nucleic Acids Research
|November 11, 1988
PubMed
Summary

Human 28S ribosomal RNA (rRNA) genes exhibit sequence heterogeneity. Analysis confirmed that 28S rRNA molecules in cells are diverse, even within conserved regions, indicating active transcription and ribosome representation.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Human 28S ribosomal RNA (rRNA) gene fragments show sequence variations.
  • The functional status of these heterogeneous gene fragments (active genes vs. pseudogenes) was previously unclear.
  • Understanding rRNA heterogeneity is crucial for comprehending gene expression and ribosome function.

Purpose of the Study:

  • To investigate the heterogeneity of 28S ribosomal RNA (rRNA) molecules within human cells.
  • To determine if observed DNA sequence variations in 28S rRNA genes are reflected in the mature rRNA population.
  • To ascertain whether these heterogeneous rRNA molecules are actively transcribed and incorporated into ribosomes.

Main Methods:

  • DNA sequencing of cloned human 28S ribosomal RNA gene fragments.
  • S1 nuclease analysis to examine the population of ribosomal RNA molecules.
  • Analysis of rRNA from both mono- and polysomal cellular fractions.

Main Results:

  • DNA sequencing revealed sequence heterogeneity among cloned human 28S rRNA gene fragments.
  • S1 nuclease analysis demonstrated that 28S rRNA exists as a heterogeneous population of molecules.
  • Sequence variations were observed not only in variable regions but also in conserved regions of the 28S rRNA molecule.
  • This heterogeneity was present in both mono- and polysomal preparations, suggesting active processing and translation.

Conclusions:

  • The heterogeneity observed in cloned 28S rRNA gene fragments is mirrored in the actual 28S rRNA population within human cells.
  • 28S rRNA molecules are not uniform and exhibit sequence variations, including in conserved regions.
  • These findings indicate that heterogeneous 28S rRNA genes are actively transcribed and contribute to the cellular ribosome pool.

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