Structure and alternative splicing of the presenilin-2 gene

Guy Prihar, Rebecca A. Fuldner, Jordi Perez-Tur, Sarah Lincoln, Karen Duff, Richard Crook, John Hardy, Cheryl A. Philips, Craig Venter, Christopher Talbot, Robert F. Clark, Alison Goate, Jinhe Li, Huntington Potter, Eric Karran, Gareth W. Roberts, Michael Hutton, Mark D. Adams

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

Abstract

Missense mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been shown to be causes of autosomal dominant Alzheimer's disease (the AD3 and AD4 loci, respectively). Alternative splicing has previously been reported in the PS-1 gene. In this study, elucidation of intron/exon boundary sequences revealed that PS-2 is encoded by 10 coding exons. In addition, PS-2 cDNA cloning and RT-PCR using RNA from a variety of normal tissues revealed the presence of alternatively spliced products. These products included species with in frame omissions of exon 8 and simultaneous omissions of exons 3 and 4.

Original languageEnglish
Pages (from-to)1680-1684
Number of pages5
JournalNeuroReport
Volume7
Issue number10
DOIs
StatePublished - 1996
Externally publishedYes

Keywords

  • Alternative splicing
  • Alzheimer's disease
  • Exon
  • Intron
  • Presenilin

Fingerprint

Dive into the research topics of 'Structure and alternative splicing of the presenilin-2 gene'. Together they form a unique fingerprint.

Cite this