Article
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.
The Journal of biological chemistry - 18 Nov 2005
Léger-Silvestre Isabelle, Caffrey Jacqueline Marie, Dawaliby Rosy, Alvarez-Arias Diana Alehandrovna, Gas Nicole, Bertolone Salvatore J, Gleizes Pierre-Emmanuel, Ellis Steven Robert
Abstract excerpt
Approximately 25% of cases of Diamond Blackfan anemia, a severe hypoplastic anemia, are linked to heterozygous mutations in the gene encoding ribosomal protein S19 that result in haploinsufficiency for this protein. Here we show that deletion of either of the two genes encoding Rps19 in yeast severely affects the production of 40 S ribosomal subunits. Rps19 is an essential protein that is strictly required for...
Topics
- Alleles
- Amino Acid Sequence
- Anemia, Diamond-Blackfan
- Blotting, Northern
- Cell Nucleus
- Cell Proliferation
- Cell Survival
- Fungal Proteins
- Galactose
- Gene Deletion