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5'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics. Uppsala University, Science for Life Laboratory, SciLifeLab. (DAHL)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
2011 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 6, no 3, p. e17672-Article in journal (Refereed) Published
Abstract [en]

The RPS19 gene uses a broad range of TSS and a short 5'UTR is associated with increased levels of RPS19. Comparisons between tissues showed a broad variation in the total amount of RPS19 mRNA and in the distribution of TSS used. Furthermore, our results indicate that rare polymorphic 5'UTR variants reduce RPS19 protein levels with implications for Diamond-Blackfan anemia.

Place, publisher, year, edition, pages
2011. Vol. 6, no 3, p. e17672-
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-151716DOI: 10.1371/journal.pone.0017672ISI: 000288247800024PubMedID: 21412415OAI: oai:DiVA.org:uu-151716DiVA, id: diva2:411046
Available from: 2011-04-15 Created: 2011-04-15 Last updated: 2017-12-11Bibliographically approved

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