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PMID: 7596406 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

Nature ·Vol. 375 ·No. 6534 ·1995-06-29 ·Pages 754-60

Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH

Abstract

Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3) associated with susceptibility to a very aggressive form of Alzheimer's disease to chromosome 14q24.3. We have defined a minimal cosegregating region containing the AD3 gene, and isolated at least 19 different transcripts encoded within this region. One of these transcripts (S182) corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein. Five different missense mutations have been found that cosegregate with early-onset familial Alzheimer's disease. Because these changes occurred in conserved domains of this gene, and are not present in normal controls, they are likely to be causative of AD3.

Related Genes

AD3 S182

MeSH Terms

Alzheimer Disease/genetics Amino Acid Sequence Animals Base Sequence Chromosome Mapping Chromosomes, Human, Pair 14 Cloning, Molecular Female Humans Male Membrane Proteins/chemistry,genetics Mice Molecular Sequence Data Mutation Open Reading Frames Pedigree Presenilin-1 Protein Structure, Secondary Transcription, Genetic

Chemicals

Membrane Proteins PSEN1 protein, human Presenilin-1

Authors & Affiliations

33 authors, click to expand affiliations / ORCID

Sherrington R

Department of Medicine (Neurology), University of Toronto, Ontario, Canada.

Rogaev E I

Liang Y

Rogaeva E A

Levesque G

Ikeda M

Chi H

Lin C

Li G

Holman K

Tsuda T

Mar L

Foncin J F

Bruni A C

Montesi M P

Sorbi S

Rainero I

Pinessi L

Nee L

Chumakov I

Pollen D

Brookes A

Sanseau P

Polinsky R J

Wasco W

Da Silva H A

Haines J L

Perkicak-Vance M A

Tanzi R E

Roses A D

Fraser P E

Rommens J M

St George-Hyslop P H

Article Info

Journal

Nature

Abbr.

Nature

ISSN

0028-0836

DOI

10.1038/375754a0

Published

1995-06-29

Pages

754-60

Language

English

Region

England

NLM ID

0410462

Subset

Grants

Canadian Institutes of Health Research · 64309 · Canada

Telethon · E.0010 · Italy

Databases

GENBANK

L40391, L40392, L40393, L40394, L40395, L40396, L40397, L40398, L40399, L40400, L40401, L40402, L40403, L42110, L42177, L76517, L76518, L76519, L76520, L76521, L76522, L76523, L76524, L76525, L76526, L76527, L76528

Corrections

CommentIn

PMID: 7596402

External Links

PubMed source DOI: 10.1038/375754a0 View journal details

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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

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