ID
45422
Beschreibung
Principal Investigator: Michaela Frye, PhD, German Cancer Research Institute - Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany MeSH: Dubowitz Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000645 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 (msup5/supC) in other RNA biotypes is still under debate. Location in RNA and function of msup5/supC has not been studied yet. This study is aimed at identifying new msup5/supC 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.
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Stichworte
Versionen (1)
- 25.11.22 25.11.22 - Chiara Middel
Rechteinhaber
Michaela Frye, PhD, German Cancer Research Institute - Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany
Hochgeladen am
25. November 2022
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs000645 Location and Function of Cytosine-5 Methylation in RNA
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and case control status of the subject for Dubowitz-like syndrome.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, and name of the center which conducted sequencing.
- This subject phenotype table contains subject IDs, age onset, height, birthplace, sex, race, education, weight, and age.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and case control status of the subject for Dubowitz-like syndrome.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, and name of the center which conducted sequencing.
- This subject phenotype table contains subject IDs, age onset, height, birthplace, sex, race, education, weight, and age.
C0680251 (UMLS CUI [1,2])
C2603343 (UMLS CUI [1,2])