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PMID: 7550356 Published · ppublish English Journal Article Multicenter Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

Nature genetics ·Vol. 11 ·No. 2 ·1995-10-00 ·Pages 219-22

Alzheimer's Disease Collaborative Group

Abstract

Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182 (Presenilin 1: PS-1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene.

MeSH Terms

Age Factors Age of Onset Alternative Splicing Alzheimer Disease/genetics Amino Acid Sequence Base Sequence Chromosome Mapping Chromosomes, Human, Pair 14 DNA Primers Exons Family Genetic Linkage Genomic Library Humans Introns Membrane Proteins/biosynthesis,genetics Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Presenilin-1

Chemicals

DNA Primers Membrane Proteins PSEN1 protein, human Presenilin-1

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Alzheimer's Disease Collaborative Group

Investigators

63 investigators, click to expand

Clark R F

Hutton M

Fuldner R A

Froelich S

Karran E

Talbot C

Crook R

Lendon C

Prihar G

He C

Korenblat K

Martinez A

Wragg M

Busfield F

Behrens M I

Myers A

Norton J

Morris J

Mehta N

Pearson C

Lincoln S

Baker M

Duff K

Zehr C

Perez-Tur J

Houlden H

Ruiz A

Ossa J

Lopera F

Arcos M

Madrigal L

Collinge J

Humphreys C

Ashworth A

Sarner S

Fox N

Harvey R

Kennedy A

Roques P

Cline R T

Phillips C A

Venter J C

Forsell L

Axelman K

Lilius L

Johnston J

Cowburn R

Vitanen M

Winblad B

Kosik K

Haltia M

Poyhonen M

Dickson D

Mann D

Neary D

Snowden J

Lantos P

Lannfelt L

Rossor M

Roberts G W

Adams M D

Hardy J

Goate A

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1095-219

Published

1995-10-00

Pages

219-22

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

NIA NIH HHS · AG00634 · United States

NIA NIH HHS · AG1187 · United States

NIA NIH HHS · AG12028 · United States

External Links

PubMed source DOI: 10.1038/ng1095-219 View journal details

Analysis Services

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

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