Ontology highlight
ABSTRACT:
SUBMITTER: Blanco S
PROVIDER: S-EPMC4195770 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Blanco Sandra S Dietmann Sabine S Flores Joana V JV Hussain Shobbir S Kutter Claudia C Humphreys Peter P Lukk Margus M Lombard Patrick P Treps Lucas L Popis Martyna M Kellner Stefanie S Hölter Sabine M SM Garrett Lillian L Wurst Wolfgang W Becker Lore L Klopstock Thomas T Fuchs Helmut H Gailus-Durner Valerie V Hrabĕ de Angelis Martin M Káradóttir Ragnhildur T RT Helm Mark M Ule Jernej J Gleeson Joseph G JG Odom Duncan T DT Frye Michaela M
The EMBO journal 20140725 18
Mutations in the cytosine-5 RNA methyltransferase NSun2 cause microcephaly and other neurological abnormalities in mice and human. How post-transcriptional methylation contributes to the human disease is currently unknown. By comparing gene expression data with global cytosine-5 RNA methylomes in patient fibroblasts and NSun2-deficient mice, we find that loss of cytosine-5 RNA methylation increases the angiogenin-mediated endonucleolytic cleavage of transfer RNAs (tRNA) leading to an accumulatio ...[more]