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The many facets of H/ACA ribonucleoproteins

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Abstract

The H/ACA ribonucleoproteins (RNPs) are known as one of the two major classes of small nucleolar RNPs. They predominantly guide the site-directed pseudouridylation of target RNAs, such as ribosomal and spliceosomal small nuclear RNAs. In addition, they process ribosomal RNA and stabilize vertebrate telomerase RNA. Taken together, the function of H/ACA RNPs is essential for ribosome biogenesis, pre-mRNA splicing, and telomere maintenance. Every cell contains 100–200 different species of H/ACA RNPs, each consisting of the same four core proteins and one function-specifying H/ACA RNA. Most of these RNPs reside in nucleoli and Cajal bodies and mediate the isomerization of specific uridines to pseudouridines. Catalysis of the reaction is mediated by the putative pseudouridylase NAP57 (dyskerin, Cbf5p). Unexpectedly, mutations in this housekeeping enzyme are the major determinants of the inherited bone marrow failure syndrome dyskeratosis congenita. This review details the many diverse functions of H/ACA RNPs, some yet to be uncovered, with an emphasis on the role of the RNP proteins. The multiple functions of H/ACA RNPs appear to be reflected in the complex phenotype of dyskeratosis congenita.

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Acknowledgements

This review is dedicated to the memory of Jim Ofengand. I thank Charles Query, Susan Smith, Jon Warner, and the members of my laboratory for critical comments on the manuscript and Nupur Kittur for performing the immunofluorescence experiments in Fig. 4. The work in the author’s laboratory is supported by grants from the American Cancer Society and the National Heart Lung and Blood Institute.

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  1. Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY, 10461, USA

    U. Thomas Meier

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Communicated by E.A. Nigg

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Meier, U.T. The many facets of H/ACA ribonucleoproteins. Chromosoma 114, 1–14 (2005). https://doi.org/10.1007/s00412-005-0333-9

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