title: Isolation and characterization of Drosophila presenilin homolog.
abstract: Presenilin-1 (PS1) and presenilin-2 (PS2) are associated with a majority of early onset familial Alzheimer's disease (FAD). Sequence analysis of PS1/2 has revealed integral transmembrane proteins which are highly homologous to the protein coded by sel-12, a Caenorhabditis elegans gene involved in the lin-12/Notch signaling pathway. The normal function of PS1/2, as well as the pathogenesis caused by mutations of these genes in FAD, are unknown however. We have identified a Drosophila presenilin homolog (DPS) and mapped the chromosomal location of this gene. DPS shows 53% amino acid identity to PS1/2 and 45% to the sel-12 product. Strong amino acid conservations appear at the position associated with FAD. In embryonic stages, DPS is expressed primarily in the CNS.
authors.affiliation: Department of Neurology, Harvard Medical School, Boston MA 02115, USA.
authors.forename: C S
authors.initials: CS
authors.lastname: Hong
authors.forename: E H
authors.initials: EH
authors.lastname: Koo
mesh_terms: D000544:Alzheimer Disease / Q000503:physiopathology; D000595:Amino Acid Sequence; D000818:Animals; D017173:Caenorhabditis elegans / Q000235:genetics; D029742:Caenorhabditis elegans Proteins; D004330:Drosophila / Q000502:physiology*; D029721:Drosophila Proteins; D004625:Embryo, Nonmammalian; D018507:Gene Expression Regulation, Developmental; D015801:Helminth Proteins / Q000737:chemistry; D006801:Humans; D008565:Membrane Proteins / Q000096:biosynthesis / Q000737:chemistry* / Q000235:genetics; D008969:Molecular Sequence Data; D009420:Nervous System / Q000378:metabolism*; D053764:Presenilin-1; D053766:Presenilin-2; D053763:Presenilins; D017386:Sequence Homology, Amino Acid
chemical_list: D029742:Caenorhabditis elegans Proteins; D029721:Drosophila Proteins; D015801:Helminth Proteins; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2; D053763:Presenilins; C106427:Psn protein, Drosophila; C095907:SEL-12 protein, C elegans