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Human RPS19, the gene mutated in Diamond Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.

Flygare, Johan LU ; Aspesi, Anna; Bailey, Joshua Cory; Miyake, Koichi LU ; Caffrey, Jacqueline Marie; Karlsson, Stefan LU and Ellis, Steven (2007) In Blood 109(3). p.980-986
Abstract
Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the human RPS19 protein functions at a similar step in 40S subunit maturation. Studies where RPS19 expression is reduced by siRNA in the hematopoietic cell line, TF-1, show that human RPS19 is also required for a specific step in the maturation of 40S ribosomal subunits. This maturation defect can be monitored by studying rRNA-processing intermediates... (More)
Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the human RPS19 protein functions at a similar step in 40S subunit maturation. Studies where RPS19 expression is reduced by siRNA in the hematopoietic cell line, TF-1, show that human RPS19 is also required for a specific step in the maturation of 40S ribosomal subunits. This maturation defect can be monitored by studying rRNA-processing intermediates along the ribosome synthesis pathway. Analysis of these intermediates in CD34(-) cells from the bone marrow of patients with DBA harboring mutations in RPS19 revealed a pre-rRNA-processing defect similar to that observed in TF-1 cells where RPS19 expression was reduced. This defect was observed to a lesser extent in CD34(+) cells from patients with DBA who have mutations in RPS19. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Blood
volume
109
issue
3
pages
980 - 986
publisher
American Society of Hematology
external identifiers
  • wos:000244132800028
  • scopus:33846867954
ISSN
1528-0020
DOI
10.1182/blood-2006-07-038232
language
English
LU publication?
yes
id
66e7c333-34c1-42a8-bc43-00af6221157d (old id 160886)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16990592&dopt=Abstract
date added to LUP
2007-07-11 11:19:15
date last changed
2017-10-01 03:35:57
@article{66e7c333-34c1-42a8-bc43-00af6221157d,
  abstract     = {Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the human RPS19 protein functions at a similar step in 40S subunit maturation. Studies where RPS19 expression is reduced by siRNA in the hematopoietic cell line, TF-1, show that human RPS19 is also required for a specific step in the maturation of 40S ribosomal subunits. This maturation defect can be monitored by studying rRNA-processing intermediates along the ribosome synthesis pathway. Analysis of these intermediates in CD34(-) cells from the bone marrow of patients with DBA harboring mutations in RPS19 revealed a pre-rRNA-processing defect similar to that observed in TF-1 cells where RPS19 expression was reduced. This defect was observed to a lesser extent in CD34(+) cells from patients with DBA who have mutations in RPS19.},
  author       = {Flygare, Johan and Aspesi, Anna and Bailey, Joshua Cory and Miyake, Koichi and Caffrey, Jacqueline Marie and Karlsson, Stefan and Ellis, Steven},
  issn         = {1528-0020},
  language     = {eng},
  number       = {3},
  pages        = {980--986},
  publisher    = {American Society of Hematology},
  series       = {Blood},
  title        = {Human RPS19, the gene mutated in Diamond Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.},
  url          = {http://dx.doi.org/10.1182/blood-2006-07-038232},
  volume       = {109},
  year         = {2007},
}