Article

Disease mutations in the N-terminal extension and α2’-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNA

2025-08-22

Abstract excerpt

The H/ACA ribonucleoprotein complex component dyskerin is essential for the biogenesis of H/ACA RNAs, including the human telomerase RNA (hTR). The N-terminal extension and α2’ helix of dyskerin are hotspots for disease-associated mutations linked to X-linked dyskeratosis congenita (X-DC), a premature aging disorder. Some of these mutations disrupt dyskerin–hTR interactions, leading to hTR destabilization and redu...

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Literature Corpus work: d6842d8e-2c16-5808-83ac-f4453e1d1253
DOI: 10.1101/2025.08.22.671787

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