Prihar, G., Fuldner, R. A., Perez-Tur, J., Lincoln, S., Duff, K., Crook, R., Hardy, J., Philips, C. A., Venter, C., Talbot, C., Clark, R. F., Goate, A., Li, J., Potter, H., Karran, E., Roberts, G. W., Hutton, M., Adams, M. D.
Structure and Alternative Splicing of the Presenilin-2 Gene
Neuroreport. 1996 Jul 08; 7(10): 1680-4.
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.