A novel cause for primordial dwarfism revealed: defective tRNA modification
Open Access
- 1 October 2015
- journal article
- research article
- Published by Springer Science and Business Media LLC in Genome Biology
- Vol. 16 (1), 1-2
- https://doi.org/10.1186/s13059-015-0786-y
Abstract
A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism. See related Research article: http://www.genomebiology.com/2015/16/1/210 .Keywords
Funding Information
- European Union’s Seventh Framework Programme for research, technological development and demonstration (IRBPostPro2.0 600404)
- Spanish Ministry of Economy and Competitiveness (FPDI-2013-17742)
- Spanish Ministry of Economy and Competitiveness (BIO2012-32200)
This publication has 10 references indexed in Scilit:
- Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfismGenome Biology, 2015
- Inosine modifications in human tRNAs are incorporated at the precursor tRNA levelNucleic Acids Research, 2015
- A‐to‐I editing on tRNAs: Biochemical, biological and evolutionary implicationsFEBS Letters, 2014
- Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy of a Genomic Region Implicated in Down SyndromeGenetics, 2014
- Role of tRNA modifications in human diseasesTrends in Molecular Medicine, 2014
- Biogenesis and Evolution of Functional tRNAsPublished by Springer Science and Business Media LLC ,2014
- Mutation inADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismusJournal of Medical Genetics, 2013
- tRNA biology charges to the frontGenes & Development, 2010
- tRNA m7G methyltransferase Trm8p/Trm82p: Evidence linking activity to a growth phenotype and implicating Trm82p in maintaining levels of active Trm8pRNA, 2005
- Isolation and Characterization of a Human Chromosome 21q22.3 Gene (WDR4) and Its Mouse Homologue That Code for a WD-Repeat ProteinGenomics, 2000