oru.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • 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
Deficient brain snRNP70K in patients with Down syndrome
Department of Pediatrics, University of Vienna, Austria.
Department of Pediatrics, University of Vienna, Austria.
Department of Pediatrics, University of Vienna, Austria.
Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, Sweden.ORCID iD: 0000-0002-4258-5348
Show others and affiliations
2001 (English)In: Electrophoresis, ISSN 0173-0835, E-ISSN 1522-2683, Vol. 22, no 1, p. 43-48Article in journal (Refereed) Published
Abstract [en]

The small nuclear ribonucleoprotein 70K (snRNP 70K; U1-70 kDa) is an integral part of the spliceosome, a large RNA-protein complex catalyzing the removal of introns from nuclear pre-mRNA. snRNP is one of the best-studied essential subunits of snRNPs, is highly conserved and its inactivation was shown to result in complete inhibition of splicing. Applying subtractive hybridization, we found a sequence with 100% identity to snRNP absent in fetal Down syndrome (DS) brain. This observation made us determine snRNP-mRNA steady-state levels and protein levels in brains of adult patients with DS. snRNP-mRNA and protein levels of five individual brain regions of DS and controls each, were determined by blotting techniques. snRNP-mRNA steady state levels were significantly decreased in DS brain. Performing Western blots with monoclonal and human antibodies, snRNP protein levels were decreased in several regions of DS brain, although one monoclonal antibody did not reveal different snRNP-immunoreactivity. Although decreased snRNP-protein could be explained by decreased mRNA-steady state levels, another underlying mechanism might be suggested: snRNP is one of the death substrates rapidly cleaved during apoptosis by interleukin-1-beta-converting enzyme-like (ICE) proteases, which was well-documented by several groups. As apoptosis is unrequivocally taking place in DS brain leading to permanent cell loses, decreased snRNP-protein levels may therefore reflect decreased synthesis and increased apoptosis-related proteolytic cleavage.

Place, publisher, year, edition, pages
Wiley-VCH Verlagsgesellschaft, 2001. Vol. 22, no 1, p. 43-48
Keywords [en]
Down syndrome, Brain, snRNP70k, Splicing, Subtractive hybridization
National Category
Medical and Health Sciences Biochemistry and Molecular Biology
Identifiers
URN: urn:nbn:se:oru:diva-70553DOI: 10.1002/1522-2683(200101)22:1<43::AID-ELPS43>3.0.CO;2-VISI: 000166282500009PubMedID: 11197177Scopus ID: 2-s2.0-0035165919OAI: oai:DiVA.org:oru-70553DiVA, id: diva2:1298562
Available from: 2019-03-24 Created: 2019-03-24 Last updated: 2019-03-26Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Authority records BETA

Henriksson, Elisabet Welin

Search in DiVA

By author/editor
Henriksson, Elisabet Welin
In the same journal
Electrophoresis
Medical and Health SciencesBiochemistry and Molecular Biology

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 40 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • 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