Location and Function of Cytosine-5 Methylation in RNA

Mutations in the cytosine-5 RNA methyltransferase NSun2 can cause neurodevelopmental disorders and symptoms commonly found in patients with Dubowitz-like syndrome. Some tRNAs are known to be methylated NSun2, however the occurrence of cytosine-5 methylation (m5C) in other RNA biotypes is still under debate. Location in RNA and function of m5C has not been studied yet. This study is aimed at identifying new m5C methylated RNA biotypes, as well as the location at specific structures or sequences and the ultimate biological function. The impact of the loss of NSun2-mediated methylation is also determined by comparing gene expression data with the global cytosine-5 RNA methylome in Dubowitz-like syndrome patients. We also use ribosomal profiling to assess the impact of the loss and rescue of Nsun2-mediated cytosine-5 RNA methylation on translation rates and ribosome occupancy.]]> Please refer to study "Ciliopathies Exome Sequencing Initiative" (dbGaP Study Accession: phs000288.v1.p1)]]> March 2012 - Release of Ciliopathies Exome Sequencing Initiative (dbGaP Study Accession: phs000288.v1.p1) June 2012 - Publication of the study Martinez FJ, Lee JH, et al. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet. 2012 Jun;49(6):380-5 (PMID: 22577224). November 2014 - Submission of additional data to dbGaP. September 2018 - Submission of additional data to dbGaP. March 2019 - Submission of additional data to dbGaP.]]>