5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.

ABSTRACT:

Background

Diamond-Blackfan anemia (DBA) is a lineage specific and congenital erythroblastopenia. The disease is associated with mutations in genes encoding ribosomal proteins resulting in perturbed ribosomal subunit biosynthesis. The RPS19 gene is mutated in approximately 25% of DBA patients and a variety of coding mutations have been described, all presumably leading to haploinsufficiency. A subset of patients carries rare polymorphic sequence variants within the 5'untranslated region (5'UTR) of RPS19. The functional significance of these variants remains unclear.

Methodology/principal findings

We analyzed the distribution of transcriptional start sites (TSS) for RPS19 mRNAs in testis and K562 cells. Twenty-nine novel RPS19 transcripts were identified with different 5'UTR

SUBMITTER: Badhai J 

PROVIDER: S-EPMC3055873 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature