uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. The Rudbeck Laboratory.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. The Rudbeck Laboratory.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. The Rudbeck Laboraory.
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Genetics and Pathology. The Rudbeck Laboratory.
Show others and affiliations
2006 (English)In: Blood Cells Mol Dis, Vol. 36, no 2, 259-264 p.Article in journal (Refereed) Published
Abstract [en]

The human ribosomal protein S19 gene (RPS19) is mutated in approximately 20% of patients with Diamond-Blackfan anemia (DBA), a congenital disease with a specific defect in erythropoiesis. The clinical expression of DBA is highly variable, and subclinical phenotypes may be revealed by elevated erythrocyte deaminase (eADA) activity only. In mice, complete loss of Rps19 results in early embryonic lethality whereas Rps19+/− mice are viable and without major abnormalities including the hematopoietic system. We have performed a detailed analysis of the Rps19+/− mice. We estimated the Rps19 levels in hematopoietic tissues and we analyzed erythrocyte deaminase activity and globin isoforms which are used as markers for DBA. The effect of a disrupted Rps19 allele on a different genetic background was investigated as well as the response to erythropoietin (EPO). From our results, we argue that the loss of one Rps19 allele in mice is fully compensated for at the transcriptional level with preservation of erythropoiesis.

Place, publisher, year, edition, pages
2006. Vol. 36, no 2, 259-264 p.
Keyword [en]
Rps19, Mouse model, Diamond-Blackfan anemia, Erythropoiesis
National Category
Dermatology and Venereal Diseases
Identifiers
URN: urn:nbn:se:uu:diva-22278DOI: doi:http://dx.doi.org/10.1016/j.bcmd.2005.12.002OAI: oai:DiVA.org:uu-22278DiVA: diva2:50051
Available from: 2007-01-15 Created: 2007-01-15 Last updated: 2011-01-11

Open Access in DiVA

No full text

Other links

Publisher's full texthttp://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WBV-4J6WG20-1&_coverDate=04%2F30%2F2006&_alid=524590905&_rdoc=1&_fmt=&_orig=search&_qd=1&_cdi=6720&_sort=d&view=c&_acct=C000035158&_version=1&_urlVersion=0&_userid=651519&md5=73dd84ac5b612245e8c94666c3b6b9df

Authority records BETA

Ronquist, GDahl, N

Search in DiVA

By author/editor
Ronquist, GDahl, N
By organisation
Department of Genetics and PathologyDepartment of Medical Sciences
Dermatology and Venereal Diseases

Search outside of DiVA

GoogleGoogle Scholar

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 393 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf