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PMID: 7638622 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Candidate gene for the chromosome 1 familial Alzheimer's disease locus.

Science (New York, N.Y.) ·Vol. 269 ·No. 5226 ·1995-08-18 ·Pages 973-7

Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K

Abstract

A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for STM2 is homologous to that of the recently cloned chromosome 14 AD gene (S182). A point mutation in STM2, resulting in the substitution of an isoleucine for an asparagine (N141l), was identified in affected people from Volga German AD kindreds. This N141l mutation occurs at an amino acid residue that is conserved in human S182 and in the mouse S182 homolog. The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.

Related Genes
S182 STM2
MeSH Terms
Adult Aged Alzheimer Disease/ethnology,genetics Amino Acid Sequence Base Sequence Chromosome Mapping Chromosomes, Human, Pair 1/genetics Cloning, Molecular DNA, Complementary/genetics Female Gene Expression Germany/ethnology Humans Lod Score Male Membrane Proteins/chemistry,genetics Middle Aged Molecular Sequence Data Mutation Pedigree Point Mutation Presenilin-2
Chemicals
DNA, Complementary Membrane Proteins PSEN2 protein, human Presenilin-2 Psen2 protein, mouse
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Levy-Lahad E
Geriatric Research Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108, USA.
Wasco W
Poorkaj P
Romano D M
Oshima J
Pettingell W H
Yu C E
Jondro P D
Schmidt S D
Wang K
Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
0036-8075
DOI
10.1126/science.7638622
Published
1995-08-18
Pages
973-7
Language
English
Region
United States
NLM ID
0404511
Subset
IM
Grants
NIA NIH HHS · AG0513C · United States
NIA NIH HHS · R01-AG11762 · United States
NIA NIH HHS · R01-AG11899 · United States
Databases
GENBANK
L43964
Corrections
CommentIn
PMID: 7638610
External Links
PubMed source DOI: 10.1126/science.7638622 View journal details
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