Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Adult
Amino Acid Sequence
Amino Acyl-tRNA Synthetases
/ genetics
Charcot-Marie-Tooth Disease
/ enzymology
Developmental Disabilities
/ enzymology
Female
Genes, Recessive
Genetic Predisposition to Disease
Hair Diseases
/ enzymology
Humans
Male
Microcephaly
/ enzymology
Mutation
Nail Diseases
/ enzymology
Pedigree
Phenotype
Prognosis
Sequence Homology
Young Adult
aminoacyl-tRNA synthetase
cysteinyl-tRNA synthetase
developmental delay
microcephaly
peripheral neuropathy
recessive disease
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
07 03 2019
07 03 2019
Historique:
received:
06
12
2018
accepted:
15
01
2019
pubmed:
3
3
2019
medline:
19
12
2019
entrez:
3
3
2019
Statut:
ppublish
Résumé
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging tRNA molecules with cognate amino acids. Consistent with the essential function and ubiquitous expression of ARSs, mutations in 32 of the 37 ARS-encoding loci cause severe, early-onset recessive phenotypes. Previous genetic and functional data suggest a loss-of-function mechanism; however, our understanding of the allelic and locus heterogeneity of ARS-related disease is incomplete. Cysteinyl-tRNA synthetase (CARS) encodes the enzyme that charges tRNA
Identifiants
pubmed: 30824121
pii: S0002-9297(19)30006-0
doi: 10.1016/j.ajhg.2019.01.006
pmc: PMC6407526
pii:
doi:
Substances chimiques
Amino Acyl-tRNA Synthetases
EC 6.1.1.-
cysteinyl-tRNA synthetase
EC 6.1.1.16
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
520-529Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM114343
Pays : United States
Organisme : NIGMS NIH HHS
ID : U01 GM108972
Pays : United States
Organisme : NINDS NIH HHS
ID : F31 NS108510
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007863
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM108972
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM126210
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007544
Pays : United States
Organisme : NINDS NIH HHS
ID : F31 NS113515
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM118647
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007315
Pays : United States
Informations de copyright
Copyright © 2019 American Society of Human Genetics. All rights reserved.
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