Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-08

AUTHORS

E. I. Rogaev, R. Sherrington, E. A. Rogaeva, G. Levesque, M. Ikeda, Y. Liang, H. Chi, C. Lin, K. Holman, T. Tsuda, L. Mar, S. Sorbi, B. Nacmias, S. Piacentini, L. Amaducci, I. Chumakov, D. Cohen, L. Lannfelt, P. E. Fraser, J. M. Rommens, P. H. St George-Hyslop

ABSTRACT

We report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence similarity to the S182 gene on chromosome 14q24.3. Mutations, including three new missense mutations in the S182 gene, are associated with the AD3 subtype of early-onset familial Alzheimer's disease (AD). Both the E5-1 and the S182 proteins are predicted to be integral membrane proteins with seven membrane-spanning domains, and a large exposed loop between the sixth and seventh transmembrane domains. Analysis of the nucleotide sequence of the open reading frame (ORF) of the E5-1 gene led to the discovery of two missense substitutions at conserved amino-acid residues in affected members of pedigrees with a form of familial AD that has a later age of onset than the AD3 subtype (50-70 years versus 30-60 years for AD3). These observations imply that the E5-1 gene on chromosome 1 and the S182 gene on chromosome 14q24.3 are members of a family of genes (presenilins) with related functions, and indicates that mutations in conserved residues of E5-1 could also play a role in the genesis of AD. Our results also indicate that still other AD susceptibility genes exist. More... »

PAGES

775-778

Journal

TITLE

Nature

ISSUE

6543

VOLUME

376

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/376775a0

    DOI

    http://dx.doi.org/10.1038/376775a0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1027907322

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/7651536


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