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.

Original languageEnglish (US)
Pages (from-to)1-14
Number of pages14
JournalChromosoma
Volume114
Issue number1
DOIs
StatePublished - May 2005

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Ribonucleoproteins
Dyskeratosis Congenita
Small Nucleolar Ribonucleoproteins
Pseudouridine
RNA
Small Nuclear RNA
Housekeeping
Ribosomal RNA
Uridine
RNA Precursors
Telomere
Catalysis
Ribosomes
Vertebrates
Proteins
Maintenance
Phenotype
Mutation
Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

The many facets of H/ACA ribonucleoproteins. / Meier, U. Thomas.

In: Chromosoma, Vol. 114, No. 1, 05.2005, p. 1-14.

Research output: Contribution to journalArticle

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