Alzheimer's presenilin 1 gene expression in platelets and megakaryocytes. Identification of a novel splice variant

Ruben Vidal, Jorge Ghiso, Thomas Wisniewski, Blas Frangione

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

The presenilin 1 (PS1) gene located on chromosome 14 has been linked with the majority of early-onset FAD. The normal biological role of PS1 as well as the mechanism by which mutations in PS1 cause FAD remains unknown. PS1 expression in platelets and the Dami megakaryocytic cell line was examined by Western blot analysis and RT-PCR. Using an anti-N-terminus PS1 antibody we detected PS1 immunoreactive bands of 44, 32 and 27 kDa in both cell types. After RT-PCR we observed that platelets and megakaryocytes carry at least four different PS1 transcripts. One of them is a novel PS1 splice variant that lacks the coding sequence for exon 10 resulting in a shorter 409 amino acid protein.

Original languageEnglish (US)
Pages (from-to)19-23
Number of pages5
JournalFEBS Letters
Volume393
Issue number1
DOIs
StatePublished - Sep 9 1996
Externally publishedYes

Keywords

  • Alzheimer's disease
  • Chromosome 14
  • Gene splicing
  • Platelet
  • Presenilin
  • mRNA

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

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