Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP

RNA. 2009 Feb;15(2):235-43. doi: 10.1261/rna.1354009. Epub 2008 Dec 17.

Abstract

Dyskeratosis congenita (DC) is an inherited disorder that implicates defects in the biology of telomeres, which are maintained by telomerase, a ribonucleoprotein with reverse transcriptase activity. Like all H/ACA RNAs, the H/ACA domain of nascent human telomerase RNA (hTR) forms a pre-RNP with H/ACA proteins NAF1, dyskerin, NOP10, and NHP2 in vivo. To assess the pre-RNP assembly of hTR mutants that poorly accumulate in vivo, we developed an in vitro system that uses components of human origin. Pre-RNPs were reconstituted with synthetic (32)P-labeled RNAs and (35)S-labeled proteins produced in rabbit reticulocyte lysate, and immunoprecipitations were carried out to analyze RNP formation. We show that human NAF1 cannot bind directly to the H/ACA domain of hTR, and requires the core trimer dyskerin-NOP10-NHP2 to be efficiently incorporated into the pre-RNP. This order of assembly seems common to H/ACA RNAs since it was observed with snoRNA ACA36 and scaRNA U92, which are predicted to guide pseudouridylation of 18S rRNA and U2 snRNA, respectively. However, the processing H/ACA snoRNA U17 did not conform to this rule, as NAF1 alone was able to bind it. We also provide the first evidence that DC-related mutations of hTR C408G and Delta378-451 severely impair pre-RNP assembly. Integrity of boxes H and ACA of hTR are also crucial for pre-RNP assembly, while the CAB box is dispensable. Our results offer new insights into the defects caused by some mutations located in the H/ACA domain of hTR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Cycle Proteins / metabolism
  • Coiled Bodies / metabolism
  • DNA-Binding Proteins / metabolism
  • Dyskeratosis Congenita / genetics*
  • Dyskeratosis Congenita / metabolism
  • Humans
  • Mutation
  • Nuclear Proteins / metabolism
  • Nucleic Acid Conformation
  • RNA / genetics*
  • RNA / metabolism
  • Rabbits
  • Ribonucleoproteins, Small Nuclear / genetics
  • Ribonucleoproteins, Small Nuclear / metabolism*
  • Ribonucleoproteins, Small Nucleolar / metabolism
  • Telomerase / genetics*
  • Telomerase / metabolism

Substances

  • Cell Cycle Proteins
  • DKC1 protein, human
  • DNA-Binding Proteins
  • NHP2 protein, human
  • NOP10 protein, human
  • Nuclear Proteins
  • Ribonucleoproteins, Small Nuclear
  • Ribonucleoproteins, Small Nucleolar
  • TNIP1 protein, human
  • telomerase RNA
  • RNA
  • Telomerase