A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene - PubMed (original) (raw)
. 1995 Dec 29;7(1):297-301.
Affiliations
- PMID: 8742474
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
J Perez-Tur et al. Neuroreport. 1995.
Abstract
A series of mutations has been reported in the presenilin-1 (PS-1) gene which cause early onset Alzheimer's disease (AD). The mutations reported to date have encoded missense mutations which alter residues conserved between PS-1 and the presenilin-2 (PS-2) gene. We have recently determined the intron/exon structure of the PS-1 gene and this information has been used to identify a mutation in the splice acceptor site for exon 9 in a family with early onset AD. Amplification of cDNA from lymphoblasts of affected individuals revealed that the effect of the mutation was to cause splicing out of exon 9, however it does not change the open reading frame of the mRNA. The importance of this observation is discussed.
Similar articles
- Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?
Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. Hiltunen M, et al. Eur J Hum Genet. 2000 Apr;8(4):259-66. doi: 10.1038/sj.ejhg.5200423. Eur J Hum Genet. 2000. PMID: 10854108 - [Mutation site of presenilin-1 gene in familial Alzheimer's disease].
Xu E, Jia J, Sun W. Xu E, et al. Zhonghua Yi Xue Za Zhi. 2002 Nov 25;82(22):1518-20. Zhonghua Yi Xue Za Zhi. 2002. PMID: 12609057 Chinese. - The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
Alzheimer's Disease Collaborative Group. Alzheimer's Disease Collaborative Group. Nat Genet. 1995 Oct;11(2):219-22. doi: 10.1038/ng1095-219. Nat Genet. 1995. PMID: 7550356 - Presenilin mutations in Alzheimer's disease.
Cruts M, Van Broeckhoven C. Cruts M, et al. Hum Mutat. 1998;11(3):183-90. doi: 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J. Hum Mutat. 1998. PMID: 9521418 Review. - Presenilins and early-onset familial Alzheimer's disease.
Rohan de Silva HA, Patel AJ. Rohan de Silva HA, et al. Neuroreport. 1997 May 27;8(8):i-xii. Neuroreport. 1997. PMID: 9223053 Review.
Cited by
- Butyrylcholinesterase is associated with β-amyloid plaques in the transgenic APPSWE/PSEN1dE9 mouse model of Alzheimer disease.
Darvesh S, Cash MK, Reid GA, Martin E, Mitnitski A, Geula C. Darvesh S, et al. J Neuropathol Exp Neurol. 2012 Jan;71(1):2-14. doi: 10.1097/NEN.0b013e31823cc7a6. J Neuropathol Exp Neurol. 2012. PMID: 22157615 Free PMC article. - Efficient overproduction of membrane proteins in Lactococcus lactis requires the cell envelope stress sensor/regulator couple CesSR.
Pinto JP, Kuipers OP, Marreddy RK, Poolman B, Kok J. Pinto JP, et al. PLoS One. 2011;6(7):e21873. doi: 10.1371/journal.pone.0021873. Epub 2011 Jul 19. PLoS One. 2011. PMID: 21818275 Free PMC article. - Interaction of apolipoprotein E epsilon 4 with other genetic and non-genetic risk factors in late onset Alzheimer disease: problems facing the investigator.
Katzman R, Kang D, Thomas R. Katzman R, et al. Neurochem Res. 1998 Mar;23(3):369-76. doi: 10.1023/a:1022461601609. Neurochem Res. 1998. PMID: 9482249 Review. - Evidence for phosphorylation and oligomeric assembly of presenilin 1.
Seeger M, Nordstedt C, Petanceska S, Kovacs DM, Gouras GK, Hahne S, Fraser P, Levesque L, Czernik AJ, George-Hyslop PS, Sisodia SS, Thinakaran G, Tanzi RE, Greengard P, Gandy S. Seeger M, et al. Proc Natl Acad Sci U S A. 1997 May 13;94(10):5090-4. doi: 10.1073/pnas.94.10.5090. Proc Natl Acad Sci U S A. 1997. PMID: 9144195 Free PMC article. - Age- and Nicotine-Associated Gene Expression Changes in the Hippocampus of APP/PS1 Mice.
Yang J, Long Y, Xu DM, Zhu BL, Deng XJ, Yan Z, Sun F, Chen GJ. Yang J, et al. J Mol Neurosci. 2019 Dec;69(4):608-622. doi: 10.1007/s12031-019-01389-7. Epub 2019 Aug 10. J Mol Neurosci. 2019. PMID: 31399937
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical