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Article

Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.

Nucleic acids research - 9 Sept 2022

Nagpal Neha, Tai Albert K, Nandakumar Jayakrishnan, Agarwal Suneet

Abstract excerpt

Mutations in DKC1 (encoding dyskerin) cause telomere diseases including dyskeratosis congenita (DC) by decreasing steady-state levels of TERC, the non-coding RNA component of telomerase. How DKC1 mutations variably impact numerous other snoRNAs remains unclear, which is a barrier to understanding disease mechanisms in DC beyond impaired telomere maintenance. Here, using DC patient iPSCs, we show that mutations in...

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Cell Cycle Proteins
Dyskeratosis Congenita
DKC1 gene
Mutation
Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA-Binding Proteins

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Identifiers

PMID: 36018809
DOI: 10.1093/nar/gkac706
PMCID: PMC9458449

Genes

DKC1
PARN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.PMID 36018809Read ↗

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenitaSemantic proximity Read ↗

Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.Semantic proximity Read ↗

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.Semantic proximity Read ↗

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.Semantic proximity Read ↗

The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.Semantic proximity Read ↗

PARN Modulates Y RNA Stability and Its 3'-End Formation.Semantic proximity Read ↗

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

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

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.Semantic proximity Read ↗

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