A novel cause for primordial dwarfism revealed: defective tRNA modification

Liudmila Filonava; Adrian Gabriel Torres; Lluis Ribas de Pouplana

doi:10.1186/s13059-015-0786-y

A novel cause for primordial dwarfism revealed: defective tRNA modification

Genome Biol. 2015 Oct 1:16:216. doi: 10.1186/s13059-015-0786-y.

Authors

Liudmila Filonava¹, Adrian Gabriel Torres¹, Lluis Ribas de Pouplana^{2

3}

Affiliations

¹ Institute for Research in Biomedicine (IRB Barcelona), Carrer de Baldiri Reixac 10, Barcelona, 08028, Catalonia, Spain.
² Institute for Research in Biomedicine (IRB Barcelona), Carrer de Baldiri Reixac 10, Barcelona, 08028, Catalonia, Spain. lluis.ribas@irbbarcelona.org.
³ Catalan Institution for Research and Advanced Studies (ICREA), Passeig de Lluis Companys 23, Barcelona, 08010, Catalonia, Spain. lluis.ribas@irbbarcelona.org.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Dwarfism, Pituitary / genetics*
Dwarfism, Pituitary / pathology
Humans
Methylation
Mutation
RNA Processing, Post-Transcriptional / genetics*
RNA, Transfer / genetics*
RNA, Transfer / metabolism
Saccharomyces cerevisiae

Substances

RNA, Transfer

Supplementary concepts

Pituitary dwarfism 1