Structure and alternative splicing of the presenilin-2 gene.
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.
Suncoast Alzheimer's Disease Laboratories, Department of Psychiatry, University of South Florida, Tampa 33613, USA.
G
G
Prihar
R A
RA
Fuldner
J
J
Perez-Tur
S
S
Lincoln
K
K
Duff
R
R
Crook
J
J
Hardy
C A
CA
Philips
C
C
Venter
C
C
Talbot
R F
RF
Clark
A
A
Goate
J
J
Li
H
H
Potter
E
E
Karran
G W
GW
Roberts
M
M
Hutton
M D
MD
Adams
D017398:Alternative Splicing / Q000235:genetics*; D000544:Alzheimer Disease / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D053766:Presenilin-2
D008565:Membrane Proteins; D053766:Presenilin-2