Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Active Transport, Cell Nucleus
Adenosine
/ metabolism
Adenosine Deaminase
/ chemistry
Adolescent
Binding Sites
Cells, Cultured
Child
Child, Preschool
Codon, Terminator
Female
Genetic Predisposition to Disease
Humans
Inosine
/ metabolism
Intellectual Disability
/ genetics
Male
Mutation, Missense
Pedigree
Protein Domains
RNA, Transfer
/ chemistry
RNA-Binding Proteins
/ chemistry
Exome Sequencing
ADAT3
adenosine deaminase
inosine
intellectual disability
tRNA modification
Journal
RNA (New York, N.Y.)
ISSN: 1469-9001
Titre abrégé: RNA
Pays: United States
ID NLM: 9509184
Informations de publication
Date de publication:
11 2020
11 2020
Historique:
received:
13
05
2020
accepted:
20
07
2020
pubmed:
9
8
2020
medline:
23
1
2021
entrez:
9
8
2020
Statut:
ppublish
Résumé
The deamination of adenosine to inosine at the wobble position of tRNA is an essential post-transcriptional RNA modification required for wobble decoding in bacteria and eukaryotes. In humans, the wobble inosine modification is catalyzed by the heterodimeric ADAT2/3 complex. Here, we describe novel pathogenic ADAT3 variants impairing adenosine deaminase activity through a distinct mechanism that can be corrected through expression of the heterodimeric ADAT2 subunit. The variants were identified in a family in which all three siblings exhibit intellectual disability linked to biallelic variants in the
Identifiants
pubmed: 32763916
pii: rna.076380.120
doi: 10.1261/rna.076380.120
pmc: PMC7566568
doi:
Substances chimiques
Codon, Terminator
0
RNA-Binding Proteins
0
Inosine
5A614L51CT
RNA, Transfer
9014-25-9
ADAT2 protein, human
EC 3.5.4.4
ADAT3 protein, human
EC 3.5.4.4
Adenosine Deaminase
EC 3.5.4.4
Adenosine
K72T3FS567
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
1654-1666Informations de copyright
© 2020 Ramos et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society.
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