The presenilin genes: a new gene family involved in Alzheimer disease pathology

摘要: A positional cloning approach has led to the identification of two closely related genes, presenilins (PS), for autosomal dominant presenile Alzheimer disease (AD): PS-1 at 14q24.3 and PS-2 1q31‐q42. The gene was identified by direct cDNA selection yeast artificial chromosomes containing candidate chromosomal region. Subsequently, due its high sequence homology with location within region defined linkage studies. To date, 30 different missense mutations one in-frame splice site mutation were described in PS-1, while only detected PS-2, suggesting that are more frequently involved familial AD. PS transcripts encode novel proteins resemble integral transmembrane roughly 450 amino acids least seven domains. genomic organization genes is very similar showing full length encoded 10 exons. However, alternative splicing patterns have been observed indicating corresponding (ps-1 ps-2) may but not identical biological functions.