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

@article{Sherrington1995CloningOA,
  title={Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease},
  author={Robin Sherrington and Evgeny I. Rogaev and Y. Liang and Ekaterina Rogaeva and Georges Lévesque and Masaki Ikeda and H. Chi and C. Lin and G. Li and K. Holman and Takehide Tsuda and Lynn Mar and J. F. Foncin and Amalia Cecilia Bruni and M. P. Montesi and Sandro Sorbi and Innocenzo Rainero and Lorenzo Pinessi and Linda E. Nee and Ilya Chumakov and Daniel A. Pollen and Anthony J. Brookes and Philippe Sanseau and Ronald J. Polinsky and Wilma Wasco and Helker Albuquerque da Silva and Jonathan L. Haines and Margaret A. Pericak-Vance and Rudolph E. Tanzi and Allen D. Roses and Paul E. Fraser and Johanna M. Rommens and Peter St. George-Hyslop},
  journal={Nature},
  year={1995},
  volume={375},
  pages={754-760}
}
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… Expand

Paper Mentions

Observational Clinical Trial
Alzheimer's disease is a condition marked by the deterioration of mental function. The disease usually begins in late middle life and results in death in 5 to 10 years. Patients… Expand
ConditionsAlzheimer's Disease, Nervous System Disease
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
TLDR
Analysis of the nucleotide sequence of the open reading frame 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). Expand
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Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.
  • J. Li, J. Ma, H. Potter
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences of the United States of America
  • 1995
TLDR
The existence of a gene encoding a seven transmembrane domain protein very similar to that encoded by AD3 in structure and sequence is reported and suggests a possible role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Expand
Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases
TLDR
This study cloned a novel gene S182 bearing five different missense mutations which segregate with early-onset familial AD to clarify the incidence of these mutations in the disease. Expand
The genetics of late-onset Alzheimer's disease
TLDR
New linkage studies now provide strong evidence for Alzheimer's disease susceptibility loci on chromosomes 9 and 10, which very probably modifies risk for Alzheimer’s disease by modulating β-amyloid-42 levels. Expand
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TLDR
A 112-base pair allele of D1S479 co-segregated with the disease in five of seven families, which is consistent with a common genetic founder. Expand
Progress in Molecular Genetics of Alzheimer's Disease
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Genetic study of familial cases of Alzheimer's disease.
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In a study of twenty AD patients with a positive family history of dementia, 15% of the cases could be explained by coding sequence mutations in the PS1 gene, suggesting their detection has a significant diagnostic value for both genetic counseling and treatment in families with AD. Expand
Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred
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More than 20 nuclear Alzheimer's disease families in Colombia that carry a single point mutation, E280A, in the presenilin 1 (PSEN1) gene are identified, suggesting that genetic and/or environmental risk factors modify the age of onset. Expand
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