Summary:

Name	Dyskeratosis Congenita (N:Nm)
Description	2′-O-Me-regulated translation is important for cellular growth, differentiation, and hematopoietic stem cell maintenance. Aberrant 2'O-Me is induced by mutations in NPM1 observed in patients with dyskeratosis congenita.
Related RNA reaction	N:Nm
Found in RNA	rRNA
Modified Transcript	28S rRNA (1327, 3764, 3866, 3904, 4198)
Mapping Technology	None
Quantification techniques	RTL-P

Enzymes connected to Dyskeratosis Congenita:

Acronym	Full name	Enzyme Role	Organism	Comment
NPM1	nucleophosmin 1	None	Homo sapiens

Publications:

ID	Title	Authors	Journal	Details	PubMed Id	DOI
1011	Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.	Anne H Bothmer,Silvia Grisendi,Aldo Mele,Dietmar Bothmer,Jonathan D Lee,Emanuele Monteleone,Ke Cheng,Yang Zhang,Assaf C Bester,Alison Guzzetti,Caitlin A Mitchell,Lourdes M Mendez,Olga Pozdnyakova,Paolo Sportoletti,Maria-Paola Martelli,Tom J Vulliamy,Modi Safra,Schraga Schwartz,Lucio Luzzatto,Olivier Bluteau,Jean Soulier,Robert B Darnell,Brunangelo Falini,Inderjeet Dokal,Keisuke Ito,John G Clohessy,	Nat Genet	[details]	31570891	10.1038/s41588-019-0502-z